Combined Granular-Lattice Corneal Dystrophy Type 2 is an inherited corneal dystrophy caused most commonly by the R124H mutation in the TGFBI (TGFBIp) gene. ...

Avellino corneal dystrophy is a genetic eye condition. A change (mutation) in the TGFBI gene makes a sticky, abnormal protein collect in the clear front window ...

Progressive external ophthalmoplegia (PEO) is a mitochondrial muscle condition where the muscles that move the eyes slowly become weak. Over years, people ...

Retinopathy, Burgess-Black type is a rare, inherited eye disease caused by harmful changes (mutations) in both copies of a gene called BEST1. This gene helps ...

Bestrophinopathy is an umbrella term for several inherited eye conditions caused by changes (variants) in a gene called BEST1. This gene helps retinal pigment ...

Autosomal recessive bestrophinopathy (ARB) is a rare, inherited eye disease. It happens when a child receives two faulty copies of a gene called BEST1—one from ...

Vitreoretinochoroidopathy with microcornea is a rare, inherited eye disease in which several parts of the eye develop and function abnormally. The back of the ...

Autosomal dominant vitreoretinochoroidopathy (ADVIRC) with nanophthalmos is a rare, inherited eye disorder. “Autosomal dominant” means a single changed gene ...

Autosomal Dominant Vitreoretinochoroidopathy—usually shortened to ADVIRC—is a very rare, inherited eye disease caused by a change (pathogenic variant) in the ...

Rhegmatogenous retinal detachment happens when a tear or hole in the retina lets the eye’s gel (vitreous) leak under the retina. Fluid collects under the ...

Optic Atrophy-Hearing Loss-Polyneuropathy-Myopathy Syndrome is a pattern of problems caused by faulty cell “power plants” (mitochondria) or proteins that shape ...

Autosomal dominant optic atrophy and peripheral neuropathy syndrome is a rare genetic condition where the optic nerves (the cables that carry visual signals ...

Autosomal dominant optic atrophy with peripheral neuropathy (ADOA-PN / “DOA+ with neuropathy”) is a rare genetic disorder. It mostly damages the optic nerve, ...

Vitreoretinopathy is an umbrella term for diseases where the vitreous gel (the clear jelly filling the eye) and the retina (the light-sensing layer lining the ...

Retinitis proliferans is an old medical term that means new, abnormal blood vessels growing on the retina. The retina is the light-sensing layer at the back of ...

CAPN5 vitreoretinopathy is a rare, inherited eye disease caused by harmful changes (variants) in the CAPN5 gene. The disease follows an autosomal dominant ...

Oculomotor apraxia (OMA) means the brain has trouble starting fast eye movements called saccades, especially when trying to look to the side on purpose. People ...

Chorioretinal dystrophy is a group of inherited eye conditions in which the retina (the light-sensing layer) and the choroid (the blood-rich layer behind the ...

Ataxia with oculomotor apraxia type 3 is a very rare, inherited brain and nerve disorder. “Ataxia” means poor balance and clumsy, unsteady movements. ...

PNKP oculomotor apraxia is a rare, inherited brain and nerve disorder. It mainly affects how the eyes start a quick movement called a “saccade.” In daily life, ...