Bilateral Acute Depigmentation of the Iris (BADI) is a rare eye condition where both irises suddenly lose their brown/blue/green color in patches or diffusely. The pigment that normally sits in the ...
Bietti crystalline retinopathy (BCR)—also called Bietti crystalline corneoretinal dystrophy—is a rare, inherited eye disease. Tiny yellow-white crystals and lipid deposits gradually build up in the ...
Bietti crystalline corneoretinal dystrophy is a rare, inherited eye disease. Tiny yellow-white crystals made of lipids (fats) collect in the retina and sometimes in the cornea. Over time, the ...
Ouvrier–Billson syndrome is a rare neuro-ophthalmic condition in babies and young children. During “spells,” the child’s eyes hold a fixed upward gaze, often for minutes to hours. Looking down is ...
Neuroocular syndrome 2, paroxysmal type (NOC2)”—a disorder best known for recurrent upward eye deviation (or vertical nystagmus) with abnormal head posturing from infancy, often with ataxia (unsteady ...
Benign concentric annular macular dystrophy (BCAMD) is a rare, inherited eye condition that slowly changes the macula—the central part of the retina that gives sharp, detailed vision. “Benign” here ...
Hemifacial hyperplasia-strabismus syndrome is a very rare condition where one side of the face grows more than the other, and the person also has eye misalignment (strabismus)—most often the eyes ...
Oculo-cerebral dysplasia describes very rare developmental conditions present from birth in which eye structures and the brain form abnormally, often alongside other issues like muscle tone problems, ...
Behrens-Baumann-Vogel syndrome is a very rare birth condition that affects the eyes and the brain. Babies are born with very small eyes (microphthalmia) and severe problems in the optic nerve (the ...
Axenfeld-Rieger syndrome (ARS) is a rare genetic condition that mainly affects the front part of the eye (the “anterior segment”). It changes the way the iris, cornea, and fluid-drainage angle form ...
Combined Granular-Lattice Corneal Dystrophy Type 2 is an inherited corneal dystrophy caused most commonly by the R124H mutation in the TGFBI (TGFBIp) gene. Abnormal protein deposits form in the clear ...
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 of the eye (the cornea). Over many ...
Progressive external ophthalmoplegia (PEO) is a mitochondrial muscle condition where the muscles that move the eyes slowly become weak. Over years, people develop droopy eyelids (ptosis) and reduced ...
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 the retinal pigment epithelium (RPE)—a ...
Bestrophinopathy is an umbrella term for several inherited eye conditions caused by changes (variants) in a gene called BEST1. This gene helps retinal pigment epithelium (RPE) cells regulate ions and ...
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 each parent. The BEST1 gene makes a ...
