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)

This is a clinicopathologic study of 62 cases of persistent hyperplastic primary vitreous (PHPV). The cases were divided into two main groups. Group 1 consisted of 55 unilateral cases not associated with any systemic abnormalities, including 36 eyes (58%) which were considered "pure cases" (Group 1A) and 19 (31%) which disclosed other ocular abnormalities in addition to PHPV (Group 1B). Group 2 consisted of 7 (11%) bilateral cases of PHPV accompanied by other ocular and systemic malformations. The most common presenting clinical signs are leukocoria, microphthalmia and cataract. The main histopathologic features of this condition are outlined, including those responsible for the disastrous results to the eye (retinal detachment, glaucoma, phthisis bulbi). Several clinical entities, usually mistaken for or associated with PHPV, such as retinoblastoma, congenital cataract, retinal dysplasia, trisomy 13 syndrome, and falciform retinal folds are discussed briefly.
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PMID:Persistent hyperplastic primary vitreous. A clinicopathologic study of 62 cases and review of the literature. 10 Aug 93

The paper analyses results of pathomorphologic studies of eyes of 28 fetuses and newborns died from multiple malformations due to the Patau (trisomy 13) syndrome. Ocular malformations were recorded in 25 observations (89%). The most frequent and typical ocular malformations in this syndrome were microphthalmia, typical colobomas of the uveal tract, dysplasia of the retina, persistence and hyperplasia of the primary vitreous body, cataract and luxation of the lens.
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PMID:[Eye developmental defects in Patau's syndrome (trisomy 13)]. 209 63