Type: Ophthalmic

Aniridia

Panocular disorder with iris hypoplasia and associated foveal, lens and corneal abnormalities.

Leber congenital amaurosis

Severe inherited retinal dystrophy causing blindness/severe visual impairment from infancy.

Leber hereditary optic neuropathy

Mitochondrial optic neuropathy causing acute/subacute bilateral central vision loss, mainly young men.

Retinitis pigmentosa

Group of inherited retinal dystrophies with progressive rod-cone photoreceptor degeneration.

Stargardt disease

Commonest inherited macular dystrophy of juvenile onset.

Usher syndrome

Commonest cause of combined deaf-blindness, pairing sensorineural hearing loss with retinitis pigmentosa.