Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Trichothiodystrophy refers to a group of autosomal recessive disorders that have in common brittle sulphur-deficient hair (7). The abnormalities are usually obvious at birth and the clinical expression is variable. Ocular abnormalities are common with bilateral cataract being the most frequent one. We report on a four year old boy with trichothiodystrophy (complementation group TTD-A) who presented to us with strabismus, high myopia and bilateral cataract.
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PMID:Bilateral cataract and high myopia in a child with trichothiodystrophy: a case report. 1245 35

Trichothiodystrophy belongs to a group of rare genetic diseases characterized by DNA repair anomalies. Ocular manifestations can occur in 50% of cases, including cataract, refractive errors, strabismus, microcornea, microphthalmia, dry eye, and pigmentary macular changes. We report a case of childhood glaucoma in a patient with trichothiodystrophy who underwent trabeculectomy in the left eye. To our knowledge, this is the first clinical report of childhood glaucoma associated with trichothiodystrophy.
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PMID:Trichothiodystrophy: a case report of childhood glaucoma associated with non-acquired systemic disease. 3032 42