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.
Submit Your Paper to GMJ
No APC until January 2027.

