Cataract with poikiloderma atrophicans: Also known as the Rothmund-Thomson syndrome, this is an hereditary disease characterized by progressive degeneration (atrophy), scarring and abnormal pigmentation of the skin together with stunting of growth, baldness, cataracts, depressed nasal bridge, and malformations of the teeth, nails and bone.
Poikiloderma atrophicans with cataract (the Rothmund-Thomson syndrome) is inherited as an autosomal recessive trait. A child born to parents each of whom has the RTS gene stands a 25% chance of receiving both RTS genes and having the disease. The RTS gene has been mapped (charted) and is known to be on chromosome 8.
The outlook (prognosis) for survival is generally fairly good. (An alternative name for this condition is poikiloderma congenita).
- Cataract, nuclear
Cataract, nuclear: A clouding of the lens that occurs only in the nucleus, in which case the term nuclear cataract or nuclear sclerosis is used. See: Cataract.
- Cataract, primary
Cataract, primary: A cataract that develops independently of other diseases. A primary cataract is in contrast to a secondary cataract, one that is secondary to another disease.
- Cataract, secondary
Cataract, secondary: A cataract that develops secondary to another disease or surgery. The other disease may, for example, be glaucoma or retinal detachment. A secondary cataract is in contrast to a primary cataract, one that develops independently of any other disease.
- Cataract, supranuclear
Cataract, supranuclear: A cataract just above the center (the nucleus) of the lens. See: Cataract.
Catatonic: 1. Characterized by marked motor abnormalities including immobility (catalepsy or stupor), excessive motor activity (purposeless agitation), extreme negativism, mutism, posturing or stereotyped movements, echolalia, and/or echopraxia. 2. A person with catatonia or catatonic schizophrenia.