Irene H. Maumenee, MD

  • Professor of Ophthalmology at CUMC
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Overview

Dr Irene H Maumenee has a lifelong interest in genetic eye diseases.

She is a medical school graduate of the University of Goettingen, Germany. She joined the Department of Ophthalmology at the University of Geneva, Switzerland, where she wrote a thesis on X-linked retinitis pigmentosa. From there she moved to the University of Honolulu, Hawaii, where she studied population genetics. As part of her studies, she initiated the long term analysis of achromatopsia on Pingelap, a small island in the Federated States of Micronesia. The studies resulted in identification of the first gene for colorblindness, CNGB3.

She moved to the Department of Medical Genetics at Johns Hopkins University in 1969. The Department had been founded by Dr Victor A McKusick, who had a strong interest in disorders of connective tissue, including the Marfan Syndrome. Her interest in genetic eye diseases made her welcome at the Institution and she stayed the next 40 years. She wrote her AOS thesis on the Marfan Syndrome and continues to work on the group of diseases, which entail dissections of the aorta.

She recently joined the Faculty of the Department of Ophthalmology at Columbia University Medical Center. She will continue her studies in genetic projects at this institution.

Academic Appointments

  • Professor of Ophthalmology at CUMC

Administrative Titles

  • Director of Applied Genetics at Columbia University

Credentials & Experience

Education & Training

  • MD, University of Goettingen Medical School (Germany)

Committees, Societies, Councils

American Society of Human Genetics

American Academy of Ophthalmology

Association for Research in Vision and Ophthalmology

Founder and former President--Ophthalmic Genetics Study Club

Co-founder and former President -- International Society for Genetic Eye Diseases

The Macula Society

Maryland Ophthalmological Society

American Medical Association

Executive Committee of the International Society of Pediatric Ophthalmology, Vice President

American Ophthalmological Society

Maryland Society of Eye Physicians and Surgeons

Pan American Association of Ophthalmology

Committee for Foreign Fellowships of the Pan American Association of Ophthalmology

President of the Sixth Congress of the International Society of Genetic Eye Disease, May 1-3, 1986, Amsterdam, The Netherlands

President of the Seventh Congress of the International Society of Genetic Eye Disease, May 11-14, 1988, Lisbon, Portugal

President of the Eighth Congress of the International Society of Genetic Eye Disease, October 25-27, 1990, Atlanta, Georgia, USA

Academia Ophthalmologica Internationalis

President of the Ninth Congress of the International Society of Genetic Eye Disease, June 1-3, 1993, Siena, Italy

Sigma Xi Scientific Research Society

President of the Tenth Congress of the International Society of Genetic Eye Disease, June 22-25, 1994, Niagra-on-the-Lake, Ontario, Canada

Honors & Awards

American Academy of Ophthalmology Laureate Recognition Award, 2017.

Leadership Award. The International Society of Genetic Eye Diseases and Retinoblastoma. Ft Lauderdale, Florida, May 2006.

Veronneau-Troutman Recognition Award for 2005.

German Marfan Association Deutscher Marfan-Preis, 1995.

American Academy of Ophthalmology Senior Honor Award, 1993.

Marion Spencer Fay National Award of the Medical College of Pennsylvania to a Distinguished Woman Physician/Scientist, 1993.

American Academy of Ophthalmology Honor Award, 1981.

Research Career Development Award, January, 1972.

WHO Visiting Investigator Award, Population Genetics Laboratory, University of Hawaii, March to April, 1970.

Research

Dr. Irene H. Maumenee has a lifelong interest in genetic eye diseases.

She is a medical school graduate of the University of Goettingen, Germany. She joined the Department of Ophthalmology at the University of Geneva, Switzerland, where she wrote a thesis on X-linked retinitis pigmentosa. From there she moved to the University of Honolulu, Hawaii, where she studied population genetics. As part of her studies, she initiated the long term analysis of achromatopsia on Pingelap, a small island in the Federated States of Micronesia. The studies resulted in identification of the first gene for colorblindness, CNGB3.

She moved to the Department of Medical Genetics at Johns Hopkins University in 1969. The Department had been founded by Dr Victor A McKusick, who had a strong interest in disorders of connective tissue, including the Marfan Syndrome. Her interest in genetic eye diseases made her welcome at the Institution and she stayed the next 40 years. She wrote her AOS thesis on the Marfan Syndrome and continues to work on the group of diseases, which entail dissections of the aorta.

She recently joined the Faculty of the Department of Ophthalmology at Columbia University Medical Center. She will continue her studies in genetic projects at this institution.

Research Interests

  • Computer application to genetic analysis
  • Molecular genetics of hereditary eye diseases
  • Nosology and management of hereditary ocular diseases
  • Population genetics

Selected Publications

PUBLICATIONS:

Comparative data on SD-OCT for retinal nerve fiber layer and retinal macular thickness in a large cohort with Marfan Syndrome. Ranaivo HR., Maumenee IH, Mets MB Ophthalmic Genetics. In Press

MFRP Regulates Actin Polymerization in Patient Specific Stem Cell Lines. LiY, WuW-H,HsuCW, NguyenHV, TsaiY-T, NagasakiT, MaumeneeIH, YannuzziLA, HoangQV, HuaH, EgliD, TsangS (Columbia University College of Physicians and Surgeons) (The New York Stem Cell Foundation)(University of Illinois Eye and Ear Infirmary) Journal of Clinical Investigation. Submitted

Systemic diagnostic testing for non-syndromic uveal coloboma. Nancy Huynh, MD,1 Delphine Blain, MS, MBA,1 Tanya Glaser, BA,1 E. Lauren Doss, BA,1 Wadih Zein, MD,1 Casey Hadsall, RNMS,1 Jennifer Sarchet, RN,1 John Rowan, BS,1 Eva Baker, MD, PhD,2 Suvimol Hill, MD,2 Carmen C. Brewer, PhD,3 Jeffrey Kopp, MD,4 Elias I. Traboulsi, MD,5 Richard R. Weleber, MD, PhD,6 Adele Schnyder, MD,7 Tanya M. Bardakijan, MS,7 Irene H. Maumenee,8 Brian P. Brooks, MD, PhD1 Amer J Ophthalmol. In Press

In vivo imaging of rod monochromat photoreceptors. Carroll J, Choi SS, Maumenee IH, Williams DR. In preparation

Conservative management of refractive amblyopia in the Marfan syndrome: Visual outcome. Alcorn DM, Maumenee IH. In preparation.

Progression of ectopia lentis in the Marfan syndrome. Alcorn DM, Maumenee IH. In preparation.

Microphthalmia, auricular clefting, dysmorphic facial features, and developmental delay - The MAFD syndrome. Monika Fleckenstein¹, Irene H. Maumenee¹. Ophthalmic Genetics. In preparation

Rahmani S, Lyon AT, Fawzi AA, Maumenee IH, Mets MB. Retinal Disease in Marfan Syndrome: From the Marfan Eye Consortium of Chicago. Ophthalmic Surg Lasers Imaging Retina. 2015 Oct;46(9):936-41. doi: 10.3928/23258160-20151008-06. PubMed PMID: 26469233.

Beleggia F, Li Y, Fan J, Elcioglu NH, Toker E, Wieland T, Maumenee IH, Akarsu NA, Meitinger T, Strom TM, Lang R, Wollnik B. CRIM1 haploinsufficiency causes defects in eye development in human and mouse. Hum Mol Genet. 2015 Apr 15;24(8):2267-73. doi: 10.1093/hmg/ddu744. PubMed PMID: 25561690; PubMed Central PMCID: PMC4380072.

Li Y, Wu WH, Hsu CW, Nguyen HV, Tsai YT, Chan L, Nagasaki T, Maumenee IH, Yannuzzi LA, Hoang QV, Hua H, Egli D, Tsang SH. Gene therapy in patient-specific stem cell lines and a preclinical model of retinitis pigmentosa with membrane frizzled-related protein defects. Mol Ther. 2014 Sep;22(9):1688-97. doi: 10.1038/mt.2014.100. PubMed PMID: 24895994; PubMed Central PMCID: PMC4435479.

Huynh N, Blain D, Glaser T, Doss EL, Zein WM, Lang DM, Baker EH, Hill S, Brewer CC, Kopp JB, Bardakjian TM, Maumenee IH, Bateman BJ, Brooks BP. Systemic diagnostic testing in patients with apparently isolated uveal coloboma. Am J Ophthalmol. 2013 Dec;156(6):1159-1168.e4. doi: 10.1016/j.ajo.2013.06.037. PubMed PMID: 24012100; PubMed Central PMCID: PMC4167417.

Estrada-Cuzcano A, Koenekoop RK, Coppieters F, Kohl S, Lopez I, Collin RW, De Baere EB, Roeleveld D, Marek J, Bernd A, Rohrschneider K, van den Born LI, Meire F, Maumenee IH, Jacobson SG, Hoyng CB, Zrenner E, Cremers FP, den Hollander AI. IQCB1 mutations in patients with leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2011 Feb 11;52(2):834-9. doi: 10.1167/iovs.10-5221. PubMed PMID: 20881296.

Li F, Batista DA, Maumenee I, Wang T. An unbalanced translocation between chromosomes 2p and 6p associated with Axenfeld-Rieger anomaly type 3, hearing loss, developmental delay, and distinct facial dysmorphism. Am J Med Genet A. 2010 May;152A(5):1318-21. doi: 10.1002/ajmg.a.33355. PubMed PMID: 20425844.

Sundin OH, Dharmaraj S, Bhutto IA, Hasegawa T, McLeod DS, Merges CA, Silval ED, Maumenee IH, Lutty GA. Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization. Ophthalmic Genet. 2008 Mar;29(1):1-9. doi: 10.1080/13816810701651241. PubMed PMID: 18363166; PubMed Central PMCID: PMC2739627.

Traboulsi EI, Ellison J, Sears J, Maumenee IH, Avallone J, Mohney BG. Aniridia with preserved visual function: a report of four cases with no mutations in PAX6. Am J Ophthalmol. 2008 Apr;145(4):760-4. doi: 10.1016/j.ajo.2007.12.012. PubMed PMID: 18243151.

den Hollander AI, Lopez I, Yzer S, Zonneveld MN, Janssen IM, Strom TM, Hehir-Kwa JY, Veltman JA, Arends ML, Meitinger T, Musarella MA, van den Born LI, Fishman GA, Maumenee IH, Rohrschneider K, Cremers FP, Koenekoop RK. Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5690-8. PubMed PMID: 18055821.

den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet. 2007 Jul;39(7):889-95. PubMed PMID: 17546029.

Santacana-Laffitte G, Izquierdo NJ, Lladó JR, Maumenee IH. Juvenile cataracts in a patient with histidinuria: case report. Ophthalmic Genet. 2006 Dec;27(4):161-3. PubMed PMID: 17148044.

Pontes de Carvalho RA, Krausse ML, Murphree AL, Schmitt EE, Campochiaro PA, Maumenee IH. Delivery from episcleral exoplants. Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4532-9. PubMed PMID: 17003449.

Abouzeid H, Li Y, Maumenee IH, Dharmaraj S, Sundin O. A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis. Ophthalmic Genet. 2006 Mar;27(1):15-20. PubMed PMID: 16543197.

Fleckenstein M, Maumenee IH. Unilateral isolated microphthalmia inherited as an autosomal recessive trait. Ophthalmic Genet. 2005 Dec;26(4):163-8. PubMed PMID: 16352476.

Finzi S, Li Y, Mitchell TN, Farr A, Maumenee IH, Sallum JM, Sundin O. Posterior polar cataract: genetic analysis of a large family. Ophthalmic Genet. 2005 Sep;26(3):125-30. PubMed PMID: 16272057.

Hagstrom SA, Pauer GJ, Reid J, Simpson E, Crowe S, Maumenee IH, Traboulsi EI. SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. Am J Med Genet A. 2005 Oct 1;138A(2):95-8. PubMed PMID: 16145681.

Ayyagari R, Mandal MN, Karoukis AJ, Chen L, McLaren NC, Lichter M, Wong DT, Hitchcock PF, Caruso RC, Moroi SE, Maumenee IH, Sieving PA. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3363-71. PubMed PMID: 16123441.

Zernant J, Külm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, Allikmets R. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3052-9. PubMed PMID: 16123401.

Sundin OH, Leppert GS, Silva ED, Yang JM, Dharmaraj S, Maumenee IH, Santos LC, Parsa CF, Traboulsi EI, Broman KW, Dibernardo C, Sunness JS, Toy J, Weinberg EM. Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. Proc Natl Acad Sci U S A. 2005 Jul 5;102(27):9553-8. PubMed PMID: 15976030; PubMed Central PMCID: PMC1172243.

Silva E, Dharmaraj S, Li YY, Pina AL, Carter RC, Loyer M, Traboulsi E, Theodossiadis G, Koenekoop R, Sundin O, Maumenee I. A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis. Ophthalmic Genet. 2004 Sep;25(3):205-17. PubMed PMID: 15512997.

Dharmaraj S, Leroy BP, Sohocki MM, Koenekoop RK, Perrault I, Anwar K, Khaliq S, Devi RS, Birch DG, De Pool E, Izquierdo N, Van Maldergem L, Ismail M, Payne AM, Holder GE, Bhattacharya SS, Bird AC, Kaplan J, Maumenee IH. The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. Arch Ophthalmol. 2004 Jul;122(7):1029-37. PubMed PMID: 15249368.

Tucker CL, Ramamurthy V, Pina AL, Loyer M, Dharmaraj S, Li Y, Maumenee IH, Hurley JB, Koenekoop RK. Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects. Mol Vis. 2004 Apr 20;10:297-303. PubMed PMID: 15123990.

Baris O, Delettre C, Amati-Bonneau P, Surget MO, Charlin JF, Catier A, Derieux L, Guyomard JL, Dollfus H, Jonveaux P, Ayuso C, Maumenee I, Lorenz B, Mohammed S, Tourmen Y, Bonneau D, Malthièry Y, Hamel C, Reynier P. Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. Hum Mutat. 2003 Jun;21(6):656. PubMed PMID: 14961560.

Keen TJ, Mohamed MD, McKibbin M, Rashid Y, Jafri H, Maumenee IH, Inglehearn CF. Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36. Eur J Hum Genet. 2003 May;11(5):420-3. PubMed PMID: 12734549.

Koenekoop RK, Fishman GA, Iannaccone A, Ezzeldin H, Ciccarelli ML, Baldi A, Sunness JS, Lotery AJ, Jablonski MM, Pittler SJ, Maumenee I. Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations. Arch Ophthalmol. 2002 Oct;120(10):1325-30. PubMed PMID: 12365911.

Sallum JMF, Farah ME, Maumenee IH: Heterogeneidade genética em atrofia óptica autossômica dominante 2002; Arquivos Brasileiros de Oftalmologia 2002;65(4):419-426

Kerrison JB, Giorda R, Lenart TD, Drack AV, Maumenee IH. Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1). Ophthalmic Genet. 2001 Dec;22(4):241-8. PubMed PMID: 11803490.

De Pool ME, el-Hileli H, Maumenee IH. The ateliotic macula: a newly recognized developmental anomaly. Trans Am Ophthalmol Soc. 2001;99:89-93; discussion 94. PubMed PMID: 11797324; PubMed Central PMCID: PMC1359027.

Kerrison JB, Miller NR, Hsu F, Beaty TH, Maumenee IH, Smith KH, Savino PJ, Stone EM, Newman NJ. A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy. Am J Ophthalmol. 2000 Dec;130(6):803-12. PubMed PMID: 11124301.

Dharmaraj SR, Silva ER, Pina AL, Li YY, Yang JM, Carter CR, Loyer MK, El-Hilali HK, Traboulsi EK, Sundin OK, Zhu DK, Koenekoop RK, Maumenee IH. Mutational analysis and clinical correlation in Leber congenital amaurosis. Ophthalmic Genet. 2000 Sep;21(3):135-50. PubMed PMID: 11035546.

Loewenstein A, Barequet IS, De Juan E Jr, Maumenee IH. Retinal detachment in Marfan syndrome. Retina. 2000;20(4):358-63. PubMed PMID: 10950412.

Silva E, Yang JM, Li Y, Dharmaraj S, Sundin OH, Maumenee IH. A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype. Invest Ophthalmol Vis Sci. 2000 Jul;41(8):2076-9. PubMed PMID: 10892846.

Sundin OH, Yang JM, Li Y, Zhu D, Hurd JN, Mitchell TN, Silva ED, Maumenee IH. Genetic basis of total colourblindness among the Pingelapese islanders. Nat Genet. 2000 Jul;25(3):289-93. PubMed PMID: 10888875.

Sohocki MM, Perrault I, Leroy BP, Payne AM, Dharmaraj S, Bhattacharya SS, Kaplan J, Maumenee IH, Koenekoop R, Meire FM, Birch DG, Heckenlively JR, Daiger SP. Prevalence of AIPL1 mutations in inherited retinal degenerative disease. Mol Genet Metab. 2000 Jun;70(2):142¬ - 50. PubMed PMID: 10873396.

Traboulsi EI, Whittum-Hudson JA, Mir SH, Maumenee IH. Microfibril abnormalities of the lens capsule in patients with Marfan syndrome and ectopia lentis. Ophthalmic Genet. 2000 Mar;21(1):9¬-15. PubMed PMID: 10779844.

Kelly J, Maumenee IH. Hereditary macular diseases. Int Ophthalmol Clin. 1999 Fall;39(4):83-115. Review. PubMed PMID: 10709584.

Dharmaraj S, Li Y, Robitaille JM, Silva E, Zhu D, Mitchell TN, Maltby LP, Baffoe-Bonnie AB, Maumenee IH. A novel locus for Leber congenital amaurosis maps to chromosome 6q. Am J Hum Genet. 2000 Jan;66(1):319-26. PubMed PMID: 10631161; PubMed Central PMCID: PMC1288337.

Rowe PC, Barron DF, Calkins H, Maumenee IH, Tong PY, Geraghty MT. Ehlers-Danlos syndrome. J Pediatr. 1999 Oct;135(4):513. PubMed PMID: 10518087.

Rowe PC, Barron DF, Calkins H, Maumenee IH, Tong PY, Geraghty MT. Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome. J Pediatr. 1999 Oct;135(4):494-9. PubMed PMID: 10518084.

Okajima K, Robinson LK, Hart MA, Abuelo DN, Cowan LS, Hasegawa T, Maumenee IH, Jabs EW. Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. Am J Med Genet. 1999 Jul 16;85(2):160-70. PubMed PMID: 10406670.

Koenekoop R, Pina AL, Loyer M, Davidson J, Robitaille J, Maumenee I, Tombran-Tink J. Four polymorphic variations in the PEDF gene identified during the mutation screening of patients with Leber congenital amaurosis. Mol Vis. 1999 Jul 2;5:10. PubMed PMID: 10398730.

Kerrison JB, Arnould VJ, Ferraz Sallum JM, Vagefi MR, Barmada MM, Li Y, Zhu D, Maumenee IH. Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3. Arch Ophthalmol. 1999 Jun;117(6):805-10. PubMed PMID: 10369594.

Parsa CF, Cheeseman EW Jr, Maumenee IH. Demonstration of exclusive cilioretinal vascular system supplying the retina in man: vacant discs. Trans Am Ophthalmol Soc. 1998;96:95-106; discussion 106-9. PubMed PMID: 10360284; PubMed Central PMCID: PMC1298390.

Caldwell GM, Kakuk LE, Griesinger IB, Simpson SA, Nowak NJ, Small KW, Maumenee IH, Rosenfeld PJ, Sieving PA, Shows TB, Ayyagari R. Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. Genomics. 1999 May 15;58(1):98-101. PubMed PMID: 10331951.

Kerrison JB, Vagefi MR, Barmada MM, Maumenee IH. Congenital motor nystagmus linked to Xq26-q27. Am J Hum Genet. 1999 Feb;64(2):600-7. PubMed PMID: 9973299; PubMed Central PMCID: PMC1377771.

Gehrig A, Felbor U, Kelsell RE, Hunt DM, Maumenee IH, Weber BH. Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1). J Med Genet. 1998 Aug;35(8):641-5. PubMed PMID: 9719369; PubMed Central PMCID: PMC1051388.

Cunningham ET Jr, Eliott D, Miller NR, Maumenee IH, Green WR. Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: a possible new genetic syndrome. Arch Ophthalmol. 1998 Jan;116(1):78-82. PubMed PMID: 9445211.

Kerrison JB, Koenekoop RK, Arnould VJ, Zee D, Maumenee IH. Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12. Am J Ophthalmol. 1998 Jan;125(1):64¬-70. PubMed PMID: 9437315.

Mir S, Wheatley HM, Hussels IE, Whittum-Hudson JA, Traboulsi EI. A comparative histologic study of the fibrillin microfibrillar system in the lens capsule of normal subjects and subjects with Marfan syndrome. Invest Ophthalmol Vis Sci. 1998 Jan;39(1):84-93. PubMed PMID: 9430549.

Kerrison JB, Maumenee IH. Neuro-ophthalmic genetics. Curr Opin Ophthalmol. 1997 Dec;8(6):35¬-40. Review. PubMed PMID: 10176101.

Litt M, Carrero-Valenzuela R, LaMorticella DM, Schultz DW, Mitchell TN, Kramer P, Maumenee IH. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Hum Mol Genet. 1997 May;6(5):665-8. PubMed PMID: 9158139.

Zhu D, Brown DR, Li Y, Mitchell TN, Maumenee Hussels, IE: Mutation detection of AO1 gene in X-linked ocular albinism. Invest Ophthalmol Vis Sci 1996; 37 (3): 996.

Traboulsi EI, Apostolides J, Giardiello FM, Krush AJ, Booker SV, Hamilton SR, Hussels IE. Pigmented ocular fundus lesions and APC mutations in familial adenomatous polyposis. Ophthalmic Genet. 1996 Dec;17(4):167-74. PubMed PMID: 9010867.

Kramer P, Yount J, Mitchell T, LaMorticella D, Carrero-Valenzuela R, Lovrien E, Maumenee I, Litt M. A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22. Genomics. 1996 Aug 1;35(3):539-42. PubMed PMID: 8812489.

Kerrison JB, Arnould VJ, Barmada MM, Koenekoop RK, Schmeckpeper BJ, Maumenee IH. A gene for autosomal dominant congenital nystagmus localizes to 6p12. Genomics. 1996 May 1;33(3):523-6. PubMed PMID: 8661013.

Haselwood DM, Lesko WS, Maumenee IH, Stark WJ, Green WR. The Castroviejo square graft. Ophthalmic Surg Lasers. 1996 Feb;27(2):127-32. PubMed PMID: 8640435.

Traboulsi EI, Maumenee IH. Photoaversion in Leber's congenital amaurosis. Ophthalmic Genet. 1995 Mar;16(1):27-30. PubMed PMID: 7648040.

Izquierdo NJ, Townsend W, Hussels IE. Ocular findings in the Hermansky-Pudlak syndrome. Trans Am Ophthalmol Soc. 1995;93:191-200; discussion 200-2. PubMed PMID: 8719678; PubMed Central PMCID: PMC1312057.

Maumenee Hussels IE: Discussion of: Rehabilitation of a child with partial unilateral cryptophthalmos and multiple congenital anomalies. By Konrad H, Merriam JC, Jones IS. Trans Amer Ophthalmol Soc 1995; XCIII: 242-243.

Maumenee Hussels IE: Discussion of: Abnormal electroretinogram (ERG) associated with developmental brain anomalies. By Cibis GW, Fitzgerald KM. Trans Amer Ophthalmol Soc 1995; XCIII: 158.

Wheatley HM, Traboulsi EI, Flowers BE, Maumenee IH, Azar D, Pyeritz RE, Whittum-Hudson JA. Immunohistochemical localization of fibrillin in human ocular tissues. Relevance to the Marfan syndrome. Arch Ophthalmol. 1995 Jan;113(1):103-9. PubMed PMID: 7826283.

Denis D, Bardot J, Volot F, Saracco JB, Maumenee IH. Effects of strabismus surgery on refraction in children. Ophthalmologica. 1995;209(3):136-40. PubMed PMID: 7630620.

Denis D, Genitori L, Bardot J, Saracco JB, Choux M, Maumenee IH. Ocular findings in trigonocephaly. Graefes Arch Clin Exp Ophthalmol. 1994 Dec;232(12):728-33. PubMed PMID: 7890186.

Rutherford GW, Zhu D, Smith EA, Maumenee IH: Studies of the PAX6 gene in patients with the anophthalmia/microphthalmia/coloboma spectrum of ocular malformations. Invest Ophthalmol Vis Sci 1994; 35 (4): 2144.

Hussels Maumenee IE: Hereditary blindness presents challenges for investigations and needs for Public Health approaches to therapy (editorial). Mid East J Ophthalmol 1994: 2 (1), 1-2.

Izquierdo NJ, Traboulsi EI, Enger C, Maumenee IH. Strabismus in the Marfan syndrome. Am J Ophthalmol. 1994 May 15;117(5):632-5. PubMed PMID: 8172269.

Gollamudi SR, Traboulsi EI, Chamon W, Stark WJ, Maumenee IH. Visual outcome after surgery for Peters' anomaly. Ophthalmic Genet. 1994 Mar;15(1):31-5. PubMed PMID: 7953250.

Chang TS, Johns DR, Walker D, de la Cruz Z, Maumenee IH, Green WR: Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndromes. Arch Ophthalmol 1993; 111, 1254-1262.

Al-Hazzaa SAF, Sakati NA, Maumenee IH: Cataract as manifestation of focal dermal hypoplasia syndrome, Goltz syndrome. Mid East J Ophthalmol 1993; 1 (2): 50-54.

Nathans J, Maumenee IH, Zrenner E, Sadowski B, Sharpe LT, Lewis RA, Hansen E, Rosenberg T, Schwartz M, Heckenlively JR, et al. Genetic heterogeneity among blue-cone monochromats. Am J Hum Genet. 1993 Nov;53(5):987-1000. PubMed PMID: 8213841; PubMed Central PMCID: PMC1682301.

Macke JP, Davenport CM, Jacobson SG, Hennessey JC, Gonzalez-Fernandez F, Conway BP, Heckenlively J, Palmer R, Maumenee IH, Sieving P, et al. Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. Am J Hum Genet. 1993 Jul;53(1):80-9. PubMed PMID: 8317502; PubMed Central PMCID: PMC1682214.

Izquierdo NJ, Maumenee IH, Traboulsi EI. Anterior segment malformations in 18q- (de Grouchy) syndrome. Ophthalmic Paediatr Genet. 1993 Jun;14(2):91-4. PubMed PMID: 8233359.

Izquierdo NJ, Royuela MA, Maumenee IH. [Possible origins of the gene of Hermansky-Pudlak in Puerto Rico]. P R Health Sci J. 1993 Jun;12(2):147-8. Spanish. PubMed PMID: 8210286.

Eliott D, Traboulsi EI, Maumenee IH. Visual prognosis in autosomal dominant optic atrophy (Kjer type). Am J Ophthalmol. 1993 Mar 15;115(3):360-7. PubMed PMID: 8442497.

Traboulsi EI, Maumenee IH. Peters' anomaly and associated congenital malformations. Arch Ophthalmol. 1992 Dec;110(12):1739-42. Review. PubMed PMID: 1463415.

Traboulsi EI, De Becker I, Maumenee IH. Ocular findings in Cockayne syndrome. Am J Ophthalmol. 1992 Nov 15;114(5):579-83. PubMed PMID: 1443019.

Bleik JH, Traboulsi EI, Maumenee IH. Familial posterior lenticonus and microcornea. Arch Ophthalmol. 1992 Sep;110(9):1208. PubMed PMID: 1520103.

Rabinowitz YS, Maumenee IH, Lundergan MK, Puffenberger E, Zhu D, Antonarakis S, Francomano CA. Molecular genetic analysis in autosomal dominant keratoconus. Cornea. 1992 Jul;11(4):302-8. PubMed PMID: 1358551.

Drack AV, Traboulsi EI, Maumenee IH. Progression of retinopathy in olivopontocerebellar atrophy with retinal degeneration. Arch Ophthalmol. 1992 May;110(5):712-3. PubMed PMID: 1580852.

Maumenee IH: The Marfan syndrome is caused by a point mutation in the fibrillin gene. (in Spanish) Arch Ophthalmol, Spanish Language Ed. 1992; 3: 276- 277.

Maumenee IH: The Marfan syndrome is caused by a point mutation in the fibrillin gene. (in Chinese) Arch Ophthalmol, Chinese Language Ed. 1992; 4: 225-226.

Maumenee IH. The Marfan syndrome is caused by a point mutation in the fibrillin gene. Arch Ophthalmol. 1992 Apr;110(4):472-3. PubMed PMID: 1562249.

Traboulsi EI, Silva JC, Geraghty MT, Maumenee IH, Valle D, Green WR. Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria. Am J Ophthalmol. 1992 Mar 15;113(3):269-80. PubMed PMID: 1543219.

Heher KL, Traboulsi EI, Maumenee IH. The natural history of Leber's congenital amaurosis. Age-related findings in 35 patients. Ophthalmology. 1992 Feb;99(2):241-5. PubMed PMID: 1553215.

Zhu DP, Economou EP, Antonarakis SE, Maumenee IH. Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy. Am J Med Genet. 1992 Jan 15;42(2):173¬9. PubMed PMID: 1346348.

Izquierdo NJ, Traboulsi EI, Enger C, Maumenee IH. Glaucoma in the Marfan syndrome. Trans Am Ophthalmol Soc. 1992;90:111-7; discussion 118-22. PubMed PMID: 1494814; PubMed Central PMCID: PMC1298429.

Collins FA, Murphy DL, Reiss AL, Sims KB, Lewis JG, Freund L, Karoum F, Zhu D, Maumenee IH, Antonarakis SE. Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes. Am J Med Genet. 1992 Jan 1;42(1):127-34. PubMed PMID: 1308352.

Giardiello FM, Offerhaus GJ, Traboulsi EI, Graybeal JC, Maumenee IH, Krush AJ, Levin LS, Booker SV, Hamilton SR. Value of combined phenotypic markers in identifying inheritance of familial adenomatous polyposis. Gut. 1991 Oct;32(10):1170-4. PubMed PMID: 1659551; PubMed Central PMCID: PMC1379380.

Sung CH, Davenport CM, Hennessey JC, Maumenee IH, Jacobson SG, Heckenlively JR, Nowakowski R, Fishman G, Gouras P, Nathans J. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 1991 Aug 1;88(15):6481-5. PubMed PMID: 1862076; PubMed Central PMCID: PMC52109.

Del Monte MA, Maumenee IH, Edwards RB. Glycosaminoglycan degradation by cultured retinal pigment epithelium from patients with retinitis pigmentosa. Curr Eye Res. 1991 Mar;10(3):241-8. PubMed PMID: 1904340.

Traboulsi EI, Murphy SF, de la Cruz ZC, Maumenee IH, Green WR. A clinicopathologic study of the eyes in familial adenomatous polyposis with extracolonic manifestations (Gardner's syndrome). Am J Ophthalmol. 1990 Nov 15;110(5):550-61. PubMed PMID: 2173407.

Collins ML, Traboulsi EI, Maumenee IH. Optic nerve head swelling and optic atrophy in the systemic mucopolysaccharidoses. Ophthalmology. 1990 Nov;97(11):1445-9. PubMed PMID: 2123975.

Zhu D, Alcorn DM, Antonarakis SE, Levin LS, Huang PC, Mitchell TN, Warren AC, Maumenee IH. Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome. Hum Genet. 1990 Nov;86(1):54-8. PubMed PMID: 1979306.

Bodker FS, Lavery MA, Mitchell TN, Lovrien EW, Maumenee IH. Microphthalmos in the presumed homozygous offspring of a first cousin marriage and linkage analysis of a locus in a family with autosomal dominant cerulean congenital cataracts. Am J Med Genet. 1990 Sep;37(1):54-9. PubMed PMID: 2240043.

Lopez PF, Maumenee IH, de la Cruz Z, Green WR. Autosomal-dominant fundus flavimaculatus. Clinicopathologic correlation. Ophthalmology. 1990 Jun;97(6):798-809. PubMed PMID: 2374685.

Traboulsi EI, Maumenee IH, Krush AJ, Alcorn D, Giardiello FM, Burt RW, Hughes JP, Hamilton SR. Congenital hypertrophy of the retinal pigment epithelium predicts colorectal polyposis in Gardner's syndrome. Arch Ophthalmol. 1990 Apr;108(4):525-6. PubMed PMID: 2157384.

Iwamoto M, Nawa Y, Maumenee IH, Young-Ramsaran J, Matalon R, Green WR. Ocular histopathology and ultrastructure of Morquio syndrome (systemic mucopolysaccharidosis IV A). Graefes Arch Clin Exp Ophthalmol. 1990;228(4):342-9. PubMed PMID: 2119328.

Maumenee IH, Mitchell TN. Colobomatous malformations of the eye. Trans Am Ophthalmol Soc. 1990;88:123-32; discussion 133-5. PubMed PMID: 2095017; PubMed Central PMCID: PMC1298581.

Nathans J, Davenport CM, Maumenee IH, Lewis RA, Hejtmancik JF, Litt M, Lovrien E, Weleber R, Bachynski B, Zwas F, et al. Molecular genetics of human blue cone monochromacy. Science. 1989 Aug 25;245(4920):831-8. PubMed PMID: 2788922.

Traboulsi EI, O'Neill JF, Maumenee IH: Autosomal recessive pericentral pigmentary retinopathy (Correspondence). Am J Ophthalmol 1989; 107: 438-439.

Maumenee IH: Discussion of: Trilateral retinoblastoma in transgenic mice. By O'Brien JM, Marcus DM, Niffenegger AS, Bernards R, Carpenter JL, Windle JJ, Mellon P, Albert DM. Trans Am Ophthalmol Soc 1989; 87: 325.

Zhu DP, Antonarakis SE, Schmeckpeper BJ, Diergaarde PJ, Greb AE, Maumenee IH. Microdeletion in the X chromosome and prenatal diagnosis in a family with Norrie disease. Am J Med Genet. 1989 Aug;33(4):485-8. PubMed PMID: 2596510.

Maumenee AE, Stark WJ, Maumenee IH, Jensen AD, Green WR. Topical retinoid treatment for various dry-eye disorders. Ophthalmology. 1989 May;96(5):730. PubMed PMID: 2748127.

Maguire AM, Maumenee IH. Iris pigment mosaicism in carriers of X-linked ocular albinism cum pigmento. Am J Ophthalmol. 1989 Mar 15;107(3):298-9. PubMed PMID: 2923159.

Traboulsi EI, O'Neill JF, Maumenee IH. Autosomal recessive pericentral pigmentary retinopathy. Am J Ophthalmol. 1988 Nov 15;106(5):551-6. PubMed PMID: 3189470.

Driscoll DJ, Jabs EW, Alcorn D, Maumenee IH, Brusilow SW, Valle D. Corneal tyrosine crystals in transient neonatal tyrosinemia. J Pediatr. 1988 Jul;113(1 Pt 1):91-3. PubMed PMID: 3385538.

Traboulsi EI, Maumenee IH, Krush AJ, Giardiello FM, Levin LS, Hamilton SR. Pigmented ocular fundus lesions in the inherited gastrointestinal polyposis syndromes and in hereditary nonpolyposis colorectal cancer. Ophthalmology. 1988 Jul;95(7):964-9. PubMed PMID: 2845322.

Naidu S, Maumenee IH, Olson J, Borel J, Moser H: Selenium therapy in ceroid lipofuscinosis. Am J Med Genet (suppl) 1988; 5: 283 289.

Traboulsi EI, Maumenee IH, Green WR, Freimer ML, Moser H. Olivopontocerebellar atrophy with retinal degeneration. A clinical and ocular histopathologic study. Arch Ophthalmol. 1988 Jun;106(6):801-6. PubMed PMID: 3163477.

Maumenee IH. [The genetic human: past, present and to come]. Bull Acad Natl Med. 1988 May;172(5):657-62. French. PubMed PMID: 3056577.

Naidu S, Hofmann KJ, Moser HW, Maumenee IH, Wenger DA. Galactosylceramide-beta¬galactosidase deficiency in association with cherry red spot. Neuropediatrics. 1988 Feb;19(1):46-8. PubMed PMID: 3362311.

Krush AJ, Traboulsi EI, Offerhaus JA, Maumenee IH, Yardley JH, Levin LS. Hepatoblastoma, pigmented ocular fundus lesions and jaw lesions in Gardner syndrome. Am J Med Genet. 1988 Feb;29(2):323-32. PubMed PMID: 3354603.

Traboulsi EI, Lenz W, Gonzales-Ramos M, Siegel J, Macrae WG, Maumenee IH. The Lenz microphthalmia syndrome. Am J Ophthalmol. 1988 Jan 15;105(1):40-5. Review. PubMed PMID: 3276203.

Francomano CA, Liberfarb RM, Hirose T, Maumenee IH, Streeten EA, Meyers DA, Pyeritz RE. The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagen. Pathol Immunopathol Res. 1988;7(1-2):104-6. PubMed PMID: 3222200.

Francomano CA, Liberfarb RM, Hirose T, Maumenee IH, Streeten EA, Meyers DA, Pyeritz RE. The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen. Genomics. 1987 Dec;1(4):293-6. PubMed PMID: 2896625.

Reese PD, Tuck-Muller CM, Maumenee IH. Autosomal dominant congenital cataract associated with chromosomal translocation [t(3;4)(p26.2;p15)]. Arch Ophthalmol. 1987 Oct;105(10):1382-4. PubMed PMID: 3662912.

Schroeder R, Mets MB, Maumenee IH. Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases. Arch Ophthalmol. 1987 Mar;105(3):356-9. PubMed PMID: 3827712.

Traboulsi EI, Maumenee IH. Bilateral melanosis of the iris. Am J Ophthalmol. 1987 Jan 15;103(1):115-6. PubMed PMID: 3799782.

Traboulsi EI, Krush AJ, Gardner EJ, Booker SV, Offerhaus GJA, Yardley JH, Hamilton SR, Luk GD, Giardiello FM, Welsh SB, Hughes JP, Maumenee IH: Prevalence and importance of pigmented ocular fundus lesions in Gardner syndrome. New Eng J Med 1987; 316: 661 667.

Traboulsi EI, Maumenee IH. Ophthalmologic manifestations of X-linked childhood adrenoleukodystrophy. Ophthalmology. 1987 Jan;94(1):47-52. PubMed PMID: 3561956.

Hofman KJ, Naidu S, Moser HW, Maumenee IH, Wenger DA. Cherry red spot in association with galactosylceramide-beta-galactosidase deficiency. J Inherit Metab Dis. 1987;10(3):273-4. PubMed PMID: 3123790.

Tseng SCG, Maumenee IH und Maumenee AE: Vitamin A Therapie des Pemphigoids der Konjunktiva. Fortschr Ophthlmol 1986; 83: 637 640.

Traboulsi EI, Maumenee IH. Ophthalmologic findings in mucolipidosis III (pseudo-Hurler polydystrophy). Am J Ophthalmol. 1986 Nov 15;102(5):592-7. PubMed PMID: 3777077.

Traboulsi EI, Maumenee IH. Hereditary pigmented paravenous chorioretinal atrophy. Arch Ophthalmol. 1986 Nov;104(11):1636-40. PubMed PMID: 3778279.

Maumenee IH. Re: Seckel's syndrome with pseudopolycoria. Ophthalmic Paediatr Genet. 1986 Aug;7(2):137. PubMed PMID: 3097599.

Kameen A Jr, Maumenee IH, Green WR: Light and electron microscopic studies of the cornea in systemic mucopolysaccharidosis, Type I HS. Cornea 1986; 5: 107 114.

Traboulsi EI, Maumenee IH. Periocular pigmentation in the Peutz-Jeghers syndrome. Am J Ophthalmol. 1986 Jul 15;102(1):126-7. PubMed PMID: 3728618.

Newsome DA, Stark WJ Jr, Maumenee IH. Cataract extraction and intraocular lens implantation in patients with retinitis pigmentosa or Usher's syndrome. Arch Ophthalmol. 1986 Jun;104(6):852-4. PubMed PMID: 3718309.

Traboulsi EI, Maumenee IH. Extraocular muscle aplasia in Moebius syndrome. J Pediatr Ophthalmol Strabismus. 1986 May-Jun;23(3):120-2. PubMed PMID: 3723293.

Maumenee IH, Traboulsi EI: Hereditary retinal dystrophy. Olivopontocerebellar atrophy with retinal degeneration. Presentation of a case. Clin Decisions Ophthalmol 1986; 10 (3): 1 9.

McDonnell PJ, Kivlin JD, Maumenee IH, Green WR. Fundus flavimaculatus without maculopathy. A clinicopathologic study. Ophthalmology. 1986 Jan;93(1):116-9. PubMed PMID: 3951808.

Maumenee IH, Alston A, Mets MB, Flynn JT, Mitchell TN, Beaty TH. Inheritance of congenital esotropia. Trans Am Ophthalmol Soc. 1986;84:85-93. PubMed PMID: 3590483; PubMed Central PMCID: PMC1298727.

McDonnell JM, Green WR, Maumenee IH. Ocular histopathology of systemic mucopolysaccharidosis, type II-A (Hunter syndrome, severe). Ophthalmology. 1985 Dec 92(12):1772-9. PubMed PMID: 3937084.

Maumenee IH, Traboulsi EI. The ocular findings in Kniest dysplasia. Am J Ophthalmol. 1985 Jul 15;100(1):155-60. PubMed PMID: 4014370.

Palmer M, Green WR, Maumenee IH, Valle DL, Singer HS, Morton SJ, Moser HW. Niemann-Pick disease--type C. Ocular histopathologic and electron microscopic studies. Arch Ophthalmol. 1985 Jun;103(6):817-22. PubMed PMID: 4004622.

Tseng SC, Maumenee AE, Stark WJ, Maumenee IH, Jensen AD, Green WR, Kenyon KR. Topical retinoid treatment for various dry-eye disorders. Ophthalmology. 1985 Jun;92(6):717-27. Erratum in: Ophthalmology 1989 May;96(5):730. PubMed PMID: 3880512.

Cavenee WK, Hansen MF, Nordenskjold M, Kock E, Maumenee I, Squire JA, Phillips RA, Gallie BL. Genetic origin of mutations predisposing to retinoblastoma. Science. 1985 Apr 26;228(4698):501-3. PubMed PMID: 3983638.

Murray TG, Green WR, Maumenee IH, Kopits SE. Spondyloepiphyseal dysplasia congenita. Light and electron microscopic studies of the eye. Arch Ophthalmol. 1985 Mar;103(3):407-11. PubMed PMID: 3977716.

Maumenee IH: Discoveries in genetic eye disease. Sightsaving 1984 85; 53: 14 15.

Maumenee IH: Tribute to the memory of the late Baron Jules François. Am J Ophthalmol 1984;98: 665 666.

Richard J, Maumenee IH, Rowe S, Lovrien EW: Congenital cataract possibly linked to haptoglobin. (Abstract) Cytogenet Cell Genet 1984; 37: 570.

Kivlin JD, Lovrien EW, Maumenee IH, Bishop DT, Bias W. Linkage analysis in lattice corneal dystrophy. Am J Med Genet. 1984 Oct;19(2):387-90. PubMed PMID: 6334443.

Moser HW, Tutschka PJ, Brown FR III, Moser AE, Yeager AM, Singh I, Mark SA, Kumar AAJ, McDonnell JM, White CL III, Maumenee IH, Green WR, Powers JM, Santos GW: Bone marrow transplant in adrenoleukodystrophy. Neurology (Cleveland) 1984; 34: 1410 17.

Bateman JB, Maumenee IH. Colobomatous macrophthalmia with microcornea. Ophthalmic Paediatr Genet. 1984 Aug;4(2):59-66. PubMed PMID: 6545385.

Maumenee IH: Discussion of: Congenital anterior polar cataract. By Jaafar MS and Robb RM. Ophthalmol 1984; 91: 253 254.

Bateman JB, Maumenee IH, Sparkes RS. Peters' anomaly associated with partial deletion of the long arm of chromosome 11. Am J Ophthalmol. 1984 Jan;97(1):11-5. PubMed PMID: 6696011.

Kivlin JD, Lovrien EW, Bishop DT, Maumenee IH. Linkage analysis in dominant optic atrophy. Am J Hum Genet. 1983 Nov;35(6):1190-5. PubMed PMID: 6580816; PubMed Central PMCID: PMC1685968.

Del Monte MA, Maumenee IH, Green WR, Kenyon KR. Histopathology of Sanfilippo's syndrome. Arch Ophthalmol. 1983 Aug;101(8):1255-62. PubMed PMID: 6411049.

Review. PubMed PMID: 6353648.

Mets MB, Maumenee IH. The eye and the chromosome. Surv Ophthalmol. 1983 Jul-Aug;28(1):20¬

Chan CC, Green WR, Maumenee IH, Sack GH Jr: Ocular ultrastructural studies of two cases of the Hurler syndrome (systemic MPS I H.) Ophthalmic Paediatr Genet 1983; 2 (1): 3 19.

Cohen SM, Green WR, de la Cruz ZC, Brown FR 3rd, Moser HW, Luckenbach MW, Dove DJ, Maumenee IH. Ocular histopathologic studies of neonatal and childhood adrenoleukodystrophy. Am J Ophthalmol. 1983 Jan;95(1):82-96. PubMed PMID: 6295171.

Nelson LB, Maumenee IH. Ectopia lentis. Surv Ophthalmol. 1982 Nov-Dec;27(3):143-60. PubMed PMID: 6984233.

Hamidi-Toosi S, Maumenee IH. Vitreoretinal degeneration in spondyloepiphyseal dysplasia congenita. Arch Ophthalmol. 1982 Jul;100(7):1104-7. PubMed PMID: 6807266.

Maumenee IH. Obituary: Louise L. Sloan, Ph. D. 1898-1982. Am J Ophthalmol. 1982 Jun;93(6):796-7. PubMed PMID: 7046449.

Schachat AP, Maumenee IH. Bardet-Biedl syndrome and related disorders. Arch Ophthalmol. 1982 Feb;100(2):285-8. PubMed PMID: 7065946.

Maumenee IH, Stoll HU, Mets MB. The Wagner syndrome versus hereditary arthroophthalmopathy. Trans Am Ophthalmol Soc. 1982;80:349-65. PubMed PMID: 7182967; PubMed Central PMCID: PMC1312274.

Maumenee IH. The eye in the Marfan syndrome. Birth Defects Orig Artic Ser. 1982;18(6):515-24. PubMed PMID: 6983370.

Maumenee IH. The eye in connective tissue diseases. Prog Clin Biol Res. 1982;82:53-6. PubMed PMID: 6810372.

Hu DN, Del Monte MA, Liu S, Maumenee IH. Morphology, phagocytosis, and vitamin A metabolism of cultured human retinal pigment epithelium. Birth Defects Orig Artic Ser. 1982;18(6):67-79. PubMed PMID: 6756502.

Werblin TP, Hirst LW, Stark WJ, Maumenee IH. Prevalence of map-dot-fingerprint changes in the cornea. Br J Ophthalmol. 1981 Jun;65(6):401-9. PubMed PMID: 7260010; PubMed Central PMCID: PMC1039533.

Maumenee IH: Discussion of: Treatment of gyrate atrophy of the choroid and retina with low arginine diet. By McInness RR, Arshinoff SA, McCulloch C. Trans Am Ophthalmol Soc 1980; 78: 240 241.

Maumenee IH, Del Monte MA: Retinal degenerative disorders and the retinal pigment epithelium: clinical characteristics, tissue culture, mucopolysaccharide metabolism. Conn Tiss 1980; 12 (2 3): 77

Del Monte MA, Maumenee IH. In vitro culture of human retinal pigment epithelium for biochemical and metabolic study. Vision Res. 1981;21(1):137-42. PubMed PMID: 7269283.

Maumenee IH. The eye in the Marfan syndrome. Trans Am Ophthalmol Soc. 1981;79:684-733. Review. PubMed PMID: 7043871; PubMed Central PMCID: PMC1312201.

Bateman JB, Riedner ED, Levin LS, Maumenee IH. Heterogeneity of retinal degeneration and hearing impairment syndromes. Am J Ophthalmol. 1980 Dec;90(6):755-67. PubMed PMID: 7446663.

65. Rosenblum P, Stark WJ, Maumenee IH, Hirst LW, Maumenee AE. Hereditary Fuchs' Dystrophy. Am J Ophthalmol. 1980 Oct;90(4):455-62. PubMed PMID: 6968504.

Cunningham JR, Lippman SM, Renie WA, Francomano CA, Maumenee IH, Pyeritz RE. Pseudoxanthoma elasticum: treatment of gastrointestinal hemorrhage by arterial embolization and observations on autosomal dominant inheritance. Johns Hopkins Med J. 1980 Oct;147(4):168-73. PubMed PMID: 6968373.

Cortin P, Archer D, Maumenee IH, Feiock K, Speros P. A patterned macular dystrophy with yellow plaques and atrophic changes. Br J Ophthalmol. 1980 Feb;64(2):127-34. PubMed PMID: 7362814; PubMed Central PMCID: PMC1039363.

Del Monte MA, Maumenee IH. New technique for in vitro culture of human retinal pigment epithelium. Birth Defects Orig Artic Ser. 1980;16(2):327-38. PubMed PMID: 7011436.

Maumenee IH, Del Monte MA. Diseases of the retinal pigment epithelium. Birth Defects Orig Artic Ser. 1980;16(2):315-26. PubMed PMID: 6101255.

Robin AL, Quigley HA, Pollack IP, Maumenee AE, Maumenee IH. An analysis of visual acuity, visual fields, and disk cupping in childhood glaucoma. Am J Ophthalmol. 1979 Nov;88(5):847-58. PubMed PMID: 507164.

Maumenee IH. Symposium: Congenital cataracts. Introduction. Ophthalmology. 1979 Sep;86(9):1553. PubMed PMID: 551340.

Maumenee IH. Classification of hereditary cataracts in children by linkage analysis. Ophthalmology. 1979 Sep;86(9):1554-8. PubMed PMID: 121767.

Maumenee IH. Vitreoretinal degeneration as a sign of generalized connective tissue diseases. Am J Ophthalmol. 1979 Sep;88(3 Pt 1):432-49. PubMed PMID: 114056.

Kenyon KR, Maumenee IH, Green WR, Libert J, Hiatt RL. Mucolipidosis IV. Histopathology of conjunctiva, cornea, and skin. Arch Ophthalmol. 1979 Jun;97(6):1106-11. PubMed PMID: 220944.

Maumenee IH: Genetics of cataracts. Docum Ophthalmol Proc Series 1980; 21: 25 29.

Massof RW, Finkelstein D, Starr SJ, Kenyon KR, Fleischman JA, Maumenee IH. Bilateral symmetry of vision disorders in typical retinitis pigmentosa. Br J Ophthalmol. 1979 Feb;63(2):90-6. PubMed PMID: 311654; PubMed Central PMCID: PMC1043404.

Maumenee IH. The cornea in connective tissue diseases. Ophthalmology. 1978 Oct;85(10):1014-7. Review. PubMed PMID: 154085.

Judisch GF, Maumenee IH. Clinical differentiation of recessive congenital hereditary endothelial dystrophy and dominant hereditary endothelial dystrophy. Am J Ophthalmol. 1978 May;85(5 Pt 1):606-12. PubMed PMID: 306759.

Libert J, Kenyon KR, Maumenee IH: Mucolipidosis III (pseudo Hurler polydystrophy). Ultrastructure of conjunctival biopsies. Metabolic Ophthalmol 1977; 1:145 148.

Elsas FJ, Maumenee IH, Kenyon KR, Yoder F. Familial aniridia with preserved ocular function. Am J Ophthalmol. 1977 May;83(5):718-24. PubMed PMID: 868970.

Prystowsky SD, Maumenee IH, Freeman RG, Herndon JH Jr, Harrod MJ. A cutaneous marker in the Hunter syndrome a report of four cases. Arch Dermatol. 1977 May;113(5):602-5. PubMed PMID: 404968.

Judisch GF, Maumenee IH. Large orbital conjunctival cyst after enucleation. Am J Ophthalmol. 1977 Jan;83(1):49-51. PubMed PMID: 835666.

Maumenee IH: Pattern of genes. World Health The magazine of the World Health Organization. Feb Mar, 1976, pp 30 31.

Maumenee IH: Pattern of genes. World Health The magazine of the World Health Organization. Feb Mar, 1976, pp 30 31.

Hussels Maumenee I, Cranley RE: Light and electron microscopy of iliac crest biopsy material from two sibs with autosomal dominant SED tarda. Birth Defects: Original Articles Series 1975; 11 (6): 368.

Maumenee IH: Discussion of presentation: a new mucolipidosis by FW Newell. Trans Am Ophthal Soc 1975; 73: 185 186.

Klingensmith WC 3rd, Eikman EA, Maumenee I, Wanger HN. Widespread abnormalities of radiocolloid distribution in patients with mycopolysaccharidoses. J Nucl Med. 1975 Nov;16(11):1002-6. PubMed PMID: 810547.

Temtamy SA, Miller JD, Hussels Maumenee I: The Coffin Lowry syndrome: an inherited facio¬digital mental retardation syndrome. J Pediatr 1975; 86:724 731.

Hussels Maumenee I, Pierce ER, Schleutermann DA, Bias WB: Linkage studies with typical retinitis pigmentosa and common markers. Am J Hum Genet 1975;27: 505 508.

Sensenbrenner JA, Hussels IE, Levin LS. A low birthweight syndrome, ? Rieger syndrome. Birth Defects Orig Artic Ser. 1975;11(2):423-6. PubMed PMID: 819055.

Maumenee IH. Letter: Autosomal dominant inheritance in albinism. Am J Ophthalmol. 1974 Oct;78(4):737-8. PubMed PMID: 4414127.

Maumenee IH. Hereditary connective tissue diseases involving the eye. Trans Ophthalmol Soc UK. 1974 Sep;94(3):753-63. PubMed PMID: 4282890.

Konigsmark BW, Knox DL, Hussels IE, Moses H. Dominant congenital deafness and progressive optic nerve atrophy. Occurrence in four generations of a family. Arch Ophthalmol. 1974 Feb;91(2):99-103. PubMed PMID: 4544000.

Hussels IE. The Coffin syndrome. Birth Defects Orig Artic Ser. 1974;10(12):491-4. PubMed PMID: 4461080.

Hussels IE. Morquio syndrome in a woman with two normal children. Birth Defects Orig Artic Ser. 1974;10(12):465-6. PubMed PMID: 4218786.

Hussels IE, Eikman EA, Kenyon KR, McKusick VA. Treatment of mucopolysaccharidoses. Birth Defects Orig Artic Ser. 1974;10(12):212-25. PubMed PMID: 4218767.

Maumenee IH. The effect of plasma and plasma derivative infusion in the mucopolysaccharidoses. Nippon Ganka Gakkai Zasshi. 1973 Sep;77(9):1422-33. PubMed PMID: 4202874.

Morton NE, Klein D, Hussels IE, Dodinval P, Todorov A, Lew R, Yee S. Genetic structure of Switzerland. Am J Hum Genet. 1973 Jul;25(4):347-61. PubMed PMID: 4716654; PubMed Central PMCID: PMC1762448.

Kenyon KR, Quigley HA, Hussels IE, Wyllie RG, Goldberg MF. The systemic mucopolysaccharidoses. Ultrastructural and histochemical studies of conjunctiva and skin. Am J Ophthalmol. 1972 Jun;73(6):811-33. PubMed PMID: 4260695.

McKusick VA, Howell RR, Hussels IE, Neufeld EF, Stevenson RE. Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses. Lancet. 1972 May 6;1(7758):993-6. PubMed PMID: 4112371.

Hussels IE, Morton NE. Pingelap and Mokil Atolls: achromatopsia. Am J Hum Genet. 1972 May;24(3):304-9. PubMed PMID: 4555088; PubMed Central PMCID: PMC1762260.

Morton NE, Lew R, Hussels IE, Little GF. Pingelap and Mokil Atolls: historical genetics. Am J Hum Genet. 1972 May;24(3):277-89. PubMed PMID: 4537352; PubMed Central PMCID: PMC1762283.

McKusick VA, Howell RR, Hussels IE, Neufeld EF, Stevenson RE. Allelism, non-allelism and genetic compounds among the mucopolysaccharidoses: corrective factors in nosology, genetics and therapy. Trans Assoc Am Physicians. 1972;85:151-71. PubMed PMID: 4267098.

Hussels IE, Knox DL. Hemifacial atrophy. Birth Defects Orig Artic Ser. 1971 Jun;7(8):292. PubMed PMID: 5173289.

Hussels IE. Vitiligo versus Waardenburg syndrome. Birth Defects Orig Artic Ser. 1971 Jun;7(8):285. PubMed PMID: 5173286.

Hussels IE. Craniofacial dysplasia (two cases). Birth Defects Orig Artic Ser. 1971 Jun;7(7):304-6. PubMed PMID: 5173237.

Hussels IE. Trichorhinophalangeal syndrome in two sibs. Birth Defects Orig Artic Ser. 1971 Jun;7(7):301-3. PubMed PMID: 5173236.

Hussels IE. Pycnodysostosis. Birth Defects Orig Artic Ser. 1971 Jun;7(7):298-300. PubMed PMID: 5173235.

Hussels IE. Microglossia, hypodontia, micrognathia, situs inversus. Birth Defects Orig Artic Ser. 1971 Jun;7(7):282. PubMed PMID: 5173228.

Hussels IE. Midface syndrome with iridochoroidal coloboma and deafness in a mother: microphthalmia in her son. Birth Defects Orig Artic Ser. 1971 Jun;7(7):269. PubMed PMID: 5173221.

Hussels IE. Angiokeratoma corporis diffusum of Fabry: two cases in unrelated males. Birth Defects Orig Artic Ser. 1971 Jun;7(8):318-21. PubMed PMID: 4281331.

Hussels IE, Davis JK. Keratosis palmaris et plantaris in two kindreds. Birth Defects Orig Artic Ser. 1971 Jun;7(8):248-50. PubMed PMID: 4281330.

Park IJ, Jones HW, Nager GT, Chen SC, Hussels IE. A new syndrome in two unrelated females: Klippel-Feil deformity, conductive deafness and absent vagina. Birth Defects Orig Artic Ser. 1971 May;7(6):311-7. PubMed PMID: 5173188.

Hussels IE. Progressive lipodystrophy. Birth Defects Orig Artic Ser. 1971 May;7(6):299-300. PubMed PMID: 5173183.

Hussels IE. Pendred syndrome (hereditary goiter and deafness). Birth Defects Orig Artic Ser. 1971May;7(6):263. PubMed PMID: 5173174.

Hussels IE. Panhypopituitarism. Birth Defects Orig Artic Ser. 1971 May;7(6):256-8. PubMedPMID: 5173172.

Hussels IE. Congenital amaurosis and nephrophthisis: a new syndrome. Birth Defects Orig ArticSer. 1971 Mar;7(3):199. PubMed PMID: 5173145.

Tipton RE, Hussels IE. Leber's congenital amaurosis and mental retardation. Birth Defects OrigArtic Ser. 1971 Mar;7(3):198. PubMed PMID: 5173144.

Schleutermann D, Pierce E, Cantolino SJ, Naidoff M, Hussels IE. Retinitis pigmentosa, X-linkedform: two kindreds. Birth Defects Orig Artic Ser. 1971 Mar;7(3):183-4. PubMed PMID: 5173139.

Abbott MH, Hussels IE. Ectopia lentis due to homocystinuria. Birth Defects Orig Artic Ser. 1971Mar;7(3):170-2. PubMed PMID: 5173135.

Goldberg MF, Hardy J, Hussels I. X-linked cataract: two pedigrees. Birth Defects Orig Artic Ser.1971 Mar;7(3):164-5. PubMed PMID: 4375503.

Brody JA, Hussels I, Brink E, Torres J. Hereditary blindness among Pingelapese people of EasternCaroline Islands. Lancet. 1970 Jun 13;1(7659):1253-7. PubMed PMID: 4192495.

Morton NE, Hussels I. Demography of inbreeding in Switzerland. Hum Biol. 1970 Feb;42(1):65¬78.PubMed PMID: 5445086.

Hussels I. Genetic structure of Saas, a Swiss isolate. Hum Biol. 1969 Dec;41(4):469-79. PubMedPMID: 5379875.

Hussels I, Bernhelm C. [Study of a new Swiss family with arthro-asteo-onychodysplasia]. SchweizMed Wochenschr. 1968 May;98(18):682-8. French. PubMed PMID: 5700749.

Klein D, Hussels I. [Case report: a family with juvenile amaurotic idiocy (Vogt-Spielmeyer).Detection of heterozygous carriers]. J Genet Hum. 1967 Jun;16(1):226-31. French. PubMed PMID: 5592428.

Hussels I. [A family eith sex-linked retinitis pigmentosa, Parkinson disease and other neuro¬psychiatric disorders]. J Genet Hum. 1967 Jun;16(1):106-55. French. PubMed PMID: 5592424.

Klein D, Franceschetti A, Hussels I, Race RR, Sanger R. X-linked retinitis pigmentosa and linkagestudies with the Xg blood-groups. Lancet. 1967 May 6;1(7497):974-5. PubMed PMID: 4164603.

Klein D, Franceschetti A, Hussels I. [Retinitis pigmentosa tied to sex, theory of Mary Lyon and theproblem of linkage of chorioretinal abiotrophies with the blood group Xg]. Arch Julius Klaus Stift Vererbungsforsch Sozialanthropol Rassenhyg. 1967;42(3-4):84-91. French. PubMed PMID: 5633068.