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 ...

Poretti-Boltshauser syndrome (PBS) is a rare, autosomal recessive neuro-ophthalmologic disorder caused by pathogenic variants in the LAMA1 gene, which encodes ...

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 ...

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 ...

Lethal ataxia with deafness and optic atrophy (Arts syndrome) is a rare, inherited metabolic–neurologic disease. Babies—usually boys—develop weak muscle tone, ...

Anterior segment dysgenesis (ASD) is a group of birth-time eye problems where the front parts of the eye—the cornea, iris, lens, drainage angle, and ciliary ...

Iridogoniodysgenesis means the colored part of the eye (the iris) and the drainage angle inside the eye (iridocorneal angle or “gonio” region) did not develop ...

Autosomal dominant iridogoniodysgenesis (IGDS) is a rare, inherited eye condition where parts at the front of the eye do not develop normally before birth. The ...

Anterior segment dysgenesis is an umbrella term for a group of eye conditions that happen when the front part of the eye does not form normally before birth. ...

Ischemic Optic Neuropathy (ION) means sudden vision loss because blood flow to the optic nerve is reduced or blocked. It comes in two main locations: anterior ...

Anterior ischemic optic neuropathy (AION) is a sudden drop in vision caused by reduced blood flow to the front part of the optic nerve (the “cable” that ...

Anterior segment dysgenesis (ASD) is a group of birth (congenital) conditions where the front parts of the eye—the cornea, iris, lens, and the drainage ...

Anterior chamber cleavage disorder (anterior segment dysgenesis, ASD) is a group of birth conditions where the front part of the eye (the cornea, iris, lens, ...

Syndromic microphthalmia type 3 (MCOPS3) is a rare genetic condition in which a baby is born with very small eyes (microphthalmia) or no visible eye tissue ...

Cassia Stocco dos Santos syndrome is an extremely rare condition present from birth that affects several body systems at the same time. Babies with this ...

Microphthalmia means a baby is born with one or both eyes that are abnormally small because eye development was interrupted before birth. It exists on a ...

Amaurosis-Hypertrichosis Syndrome is a very rare, inherited condition that affects the eyes and body hair. Babies are born with serious retina problems (the ...

Forsius–Eriksson type ocular albinism—today most often referred to as Åland Islands eye disease (AIED). It is an X-linked retinal channelopathy in which ...

Forsius–Eriksson syndrome—also called Åland Islands eye disease (AIED)—is a very rare eye condition present from birth. It mainly affects boys because the gene ...

Åland Islands Eye Disease (AIED), also called Forsius–Eriksson syndrome, is a rare, inherited eye condition that mostly affects boys and men because it is ...