A corneal ulcer is an open sore on the cornea, the clear dome-shaped surface that covers the front of the eye. It is usually caused by an infection, such as bacterial, viral, or fungal, or by an injury to the eye. Symptoms of a corneal ulcer inclu...

De Barsy syndrome is a rare, autosomal recessive genetic disorder, the main characteristics of which are a prematurely aged-looking face (progeria), cloudy corneas, short stature, and mental retardation. The condition is expressed in variable pres...

Autosomal dominant interstitial kidney disease describes a group of diseases affecting solely the proper function of the kidney and having the following characteristics: They are inherited in an autosomal dominant manner; kidney disease develops, ...

De Barsy syndrome is a rare, autosomal recessive genetic disorder, the main characteristics of which are a prematurely aged-looking face (progeria), cloudy corneas, short stature, and mental retardation. The condition is expressed in variable pres...

De Barsy syndrome is a rare, autosomal recessive genetic disorder, the main characteristics of which are a prematurely aged-looking face (progeria), cloudy corneas, short stature, and mental retardation. The condition is expressed in variable pres...

Mucolipidosis IV is a rare inherited metabolic disorder believed to be characterized by a deficiency of transport channel receptor protein, based upon the recent discovery of the Mucolipidosis IV gene. This deficiency may lead to the accumulation ...

Gottron syndrome (GS) is an extremely rare inherited disorder characterized by the appearance of premature aging (progeria), especially in the form of unusually fragile, thin skin on the hands and feet (distal extremities). GS is described as a mi...

Lowe syndrome is characterized by vision problems including clouding of the lenses of the eyes (cataracts) that are present at birth, kidney problems that usually develop in the first year of life, and brain abnormalities that are associated with ...

Lowe syndrome is characterized by vision problems including clouding of the lenses of the eyes (cataracts) that are present at birth, kidney problems that usually develop in the first year of life, and brain abnormalities that are associated with ...

Marinesco-Sjogren syndrome (MSS) is a rare genetic disorder that affects multiple organ systems of the body. Common symptoms include difficulty coordinating voluntary movements due to degeneration (atrophy) of the cerebellum (cerebellar ataxia), c...

Morquio syndrome (mucopolysaccharidosis type IV; MPS IV) is a mucopolysaccharide storage disease that exists in two forms (Morquio syndromes A and B) and occurs because of a deficiency of the enzymes N-acetyl-galactosamine-6-sulfatase and beta-gal...

Onchocerciasis, also known as African River Blindness, is a parasitic infection caused by the filarial worm Onchocerca volvulus. It is transmitted to humans through the bite of an infected blackfly. Symptoms of the infection include severe itching...

Retinoblastoma is a rare form of eye cancer that affects the retina, the light-sensitive tissue at the back of the eye. It is most commonly found in children under the age of five, and is caused by a genetic mutation. Symptoms of retinoblastoma in...

Uveitis is an inflammation of the uvea, the middle layer of the eye that contains the blood vessels, iris, and ciliary body. It can cause pain, redness, and blurred vision. Uveitis can be caused by infection, injury, or autoimmune diseases. Treatm...