Educational Resources

Eye Genetics FAQs

Why should I have genetic testing?

Genetic testing can be an important tool in diagnosing and managing retinal diseases. Unlike traditional diagnoses, these tests can screen for several diseases at once, and can show if you have a disease before you have symptoms. What should I expect during my first visit?   New patients visiting the genetics clinic undergo a series of tests. This can include some or all of the following:

  • Eye exam and imaging tests
  • Electrophysiology
  • Visual field testing
  • Family history and DNA testing
  • Additional testing

How long will my appointment be?

A full appointment might take several hours to complete, or may require several days of visits. Patients who require specialized testing, ophthalmic examination, and clinical consultation might need longer appointments. Clinic staff might be able to tell you before the appointment how long you can expect your visit to take.

What genes does the test screen for?

There are over 200 genes that can cause retinal disease, but your exam and family history might be able to narrow down the conditions you should be screened for. Depending on the conditions you might have, your physician might order testing for any of the following genes:

  • Achromatopsia - CNGA3, CNGB3
  • Albinism – Recessive: TYR, OCA2, TYRP1, SLC45A1; X-linked: GPR143 (OA1)
  • Best disease - BEST1
  • Choroideremia - CHM
  • Cone rod dystrophy - ABCA4, RPGR, CRX, GUCY2D (codon R838)
  • Congenital stationary night blindness - GPR179, RHO, NYX, TRPM1
  • Corneal dystrophy - TGFBI, KRT3, KRT12
  • Doyne honeycomb dystrophy - EFEMP1
  • Familial exudative vitreal retinopathy - FZD4, LRP5, NDP, TSPAN12
  • Glaucoma (juvenile open-angle and congenital types only) - CYP1B1, OPTN, MYOC
  • Juvenile X-linked retinoschisis - RS1
  • Leber hereditary optic neuropathy (LHON) - LHON panel (MT-ND4, MT-ND1, MT-ND6/mutations 11778G>A, 3460G>A, 14484T>C, and 14459G>A)
  • Microphthalmia and Anophthalmia - RAX, SOX2, OTX2, VSX2, STRA6 and SIX6del/dup analysis
  • Neurodegeneration with brain iron accumulation (NBIA) - FA2H, MMIN, PANK2, PLA2G6
  • Occult macular dystrophy - RP1L1 (R45W)
  • Optic atrophy, dominant - OPA1, OPA3
  • Pattern dystrophy - PRPH2
  • Retinitis pigmentosa (RP) and retinal degenerations – Dominant: panel** (includes RHO, PRPH2, RP1, IMPDH1, PRPF8, NR2E3, PRPF3, TOPORS, PRPF31, RP1, KLHL7, SNRPN200), CA4, CRB1, CTRP5, X-linked RPGR, RP2; Recessive: single genes available on as needed basis.
  • Retinoblastoma - RB1
  • Early onset macular degeneration - ABCA4, ELOVL4, RDS
  • Usher syndrome - Usher panel** (CDH23, CLRN1, DFNB31 (WHRN), GPR98