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 retina and lifts it off the back wall of the ...
Optic Atrophy-Hearing Loss-Polyneuropathy-Myopathy Syndrome is a pattern of problems caused by faulty cell “power plants” (mitochondria) or proteins that shape and maintain them. The optic nerve ...
Autosomal dominant optic atrophy and peripheral neuropathy syndrome is a rare genetic condition where the optic nerves (the cables that carry visual signals from the eyes to the brain) slowly waste ...
Autosomal dominant optic atrophy with peripheral neuropathy (ADOA-PN / “DOA+ with neuropathy”) is a rare genetic disorder. It mostly damages the optic nerve, the cable that carries visual signals ...
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 back of the eye) are both involved. In ...
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 the eye. These fragile vessels grow ...
CAPN5 vitreoretinopathy is a rare, inherited eye disease caused by harmful changes (variants) in the CAPN5 gene. The disease follows an autosomal dominant pattern—one altered copy of the gene is ...
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 often thrust or turn their head first, ...
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 retina) slowly degenerate over time. ...
Ataxia with oculomotor apraxia type 3 is a very rare, inherited brain and nerve disorder. “Ataxia” means poor balance and clumsy, unsteady movements. “Oculomotor apraxia” means trouble starting fast ...
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, people struggle to quickly look toward ...
Ataxia-oculomotor apraxia type 4 (AOA4) is a rare, inherited brain and nerve disorder. It mainly harms the cerebellum (the balance and coordination center) and nearby wiring. Children usually start ...
Poretti-Boltshauser syndrome (PBS) is a rare, autosomal recessive neuro-ophthalmologic disorder caused by pathogenic variants in the LAMA1 gene, which encodes laminin α1, a structural protein ...
Blepharochalasis is a rare eyelid condition where the eyelids swell from time to time without pain. These “attacks” usually start in childhood or the teen years. Each flare lasts a short time (often ...
Ascher syndrome is a very rare, benign condition. It is best known for a “triad” of three findings: repeated swelling and loosening of the upper eyelids (called blepharochalasis), a double upper lip ...
Lethal ataxia with deafness and optic atrophy (Arts syndrome) is a rare, inherited metabolic–neurologic disease. Babies—usually boys—develop weak muscle tone, poor balance and coordination (ataxia), ...
