- Achromatopsia
- Aniridia
- Axenfeld-Rieger syndrome
- Best disease
- CHARGE syndrome
- Choroideremia
- Coloboma
- Cone-rod dystrophy
- Congenital cataracts
- Congenital Stationary Night Blindness
- Corneal dystrophies
- Doyne Honeycome dystrophy
- Familial Exudative Vitreous Retinopathy
- Glaucoma (juvenile open-angle and congenital types)
- Gyrate atrophy
- Hermansky-Pudlak
- Juvenile X-linked retinoschisis
- Joubert syndrome
- Knobloch syndrome
- Leber Hereditary Optic Neuropathy (LHON)
- Leber Congenital Amaurosis
- Microphthalmia and Anophthalmia
- Maternally-inherited Diabets and Deafness (MIDD)
- Neurodegeneration with Brain Iron Accumulation (NBIA)
- Occult macular dystrophy
- Ocular Albinism
- Optic atrophy, dominant
- Pattern dystrophy
- Retinitis pigmentosa
- Retinal degeneration
- Retinoblastoma
- Rod-cone dystrophy
- Stargardt disease
- Stickler syndrome
- Senior Loken
- Early-onset Macular Degeneration
- Usher syndrome
- Vitelliform macular dystrophy
- Wagner syndrome
Please note that this list is non-inclusive. Please feel free to email appliedgenetics_oph@cumc.columbia.edu with any questions about the conditions we specialize in.