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 report on two siblings that have been followed for 14 years, with merosin-positive congenital muscular dystrophy (CMD), cataract, retinitis pigmentosa, dysversion of the optic disc, but no cerebral anomalies, except for microcephaly and slight mental retardation (MR). The younger child had three generalized seizures easily controlled by anticonvulsant therapy. Both children presented hypotonia from birth, delayed psychomotor development, generalized muscular weakness, and atrophy and joint contractures of knees and ankles. The course of the disease, apparently static during the first 10 years of life, became progressive during the second decade with loss of deambulation by the age of 13. Creatine kinase was increased in both children. Bilateral cataract was diagnosed at 6-months of age. In spite of the occurrence of microcephaly, MR was slight and the siblings acquired reading and writing skills after the aged 10. Head magnetic resonance imaging showed normal results in both siblings. The classification of these cases within the broad spectrum of CMD is difficult since most of the known muscle-eye-brain syndromes generally show severe MR and brain anomalies. We consider these cases as corresponding to the rarer syndromes of merosin-positive CMD with associated features such as cataract and MR that were particularly emphasized during the 50th ENMC International Workshop on CMD [Dubowitz V. Workshop report: 50th ENMC International workshop on congenital muscular dystrophy. Neuromusc Disord 1997;7:539-547]. Further genetic, pathological, neuroradiological, and immunocytochemical studies will be necessary for better elucidation of the classification and pathogenesis of CMD.
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PMID:Merosin-positive congenital muscular dystrophy in two siblings with cataract and slight mental retardation. 1039 52

The Dubowitz syndrome is a rare, autosomal recessive disorder including intrauterine growth retardation, craniofacial abnormalities, mental retardation and eczematous skin eruption. Ocular problems occur in about 20%: strabismus, blefarophimosis, ptosis, telecanthus and epicanthal folds being the most frequent ones. We present a three years old girl, diagnosed with Dubowitz syndrome, with sudden visual loss due to bilateral cataract.
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PMID:Sudden development of bilateral cataract in a child with Dubowitz syndrome: a case report. 1176 56

This review article examines the ophthalmic literature published on cataracts and systemic disease during the past year. Epidemiologically, the association between alcohol consumption and lens opacification is reviewed. Cataracts continue to be strongly associated with systemic diseases such as diabetes mellitus. Clinical, basic science reports and the results of the Blue Mountains Eye Study group on the morphology of diabetes-related cataracts are presented. Patients with neurologic disorders such as Wilson disease may first present with decreased vision and cataracts. Cataracts are now associated with syndromes such as Cohen syndrome, Degos disease, and Dubowitz syndrome. A recent study suggests earlier mortality in middle-age patients undergoing cataract surgery.
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PMID:Cataracts associated with systemic disorders and syndromes. 1244 47