Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We found a female cataractous DDD/1-nu/+ mouse and established a hairy mutant strain (DDD/1-Cti/Cti) with 100% incidence of cataract from it by repeating sibmating. Genetic studies demonstrated that a single autosomal semidominant gene controls cataractogenesis. This gene was named Cti. In homozygotes, DDD/1-Cti/Cti, the lenses began to opacify at 14 days of fetal life and were recognized clinically as cataract at 13-14 days of age when the eyes first open. The opacification became more and more intense with age and looked like mature cataract at 28-42 days of age. However, clarification of the opacified lenses commenced at the periphery after 56 days of age and expanded to the inside with time, and only an opaque spot was left at the center at 140 days of age. In heterozygotes, DDD/1-Cti/+, the lenses were recognizable as cataract after 28 days and became like mature cataract around 35 days of age. The opacity began to be lightened at 42 days and the lenses appeared normal at 56 days of age. Both lenses and eyeballs developed in similar courses in DDD/1(-)+/+, -Cti/+ and -Cti/Cti, although slightly retarded in the last. Microphthalmia was not accompanied even in DDD/1-Cti/Cti. The lens water content remained higher during the time when intense lens opacity continued in DDD/1-Cti/Cti and -Cti/+. Background genes appeared to affect the expression of Cti. DDD/1-Cti(-)+ mice may provide a model for researches into clarification of opaque lenses. A discussion concerning the possible allelism of Cti and Cts with Lop was made based on their phenotypic characteristics.
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PMID:[Characterization of dominant hereditary cataract in DDD/1 mice]. 204 67

Keratoconus is a progressive non-inflammatory corneal ectasia. Alopecia areata is complete loss of hair patches on the hairy areas of the body in association with some ocular manifestations such as cataract, or disorders of the conjunctiva, iris, lens, choroid and retina pigment epithelium. A ten-year-old patient with atopic keratoconjunctivitis, keratoconus and alopecia areata is presented. This patient has also been receiving treatment for Hashimoto thyroiditis (chronic lymphocytic thyroiditis) for more than three years. The possible association of keratoconus with multisystem autoimmune disease is discussed.
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PMID:Bilateral keratoconus associated with Hashimoto's disease, alopecia areata and atopic keratoconjunctivitis. 1043 26