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)

Rubinstein-Taybi syndrome is a constellation of clinical findings characterized by mental and motor retardation, broad thumbs and broad first toes, typical facies. Ocular and adnexal abnormalities are quite common and include antimongoloid slant of the palpebral fissures, epicanthal folds, congenital obstruction of the lacrimal excretory system, ptosis, strabismus, congenital cataract and congenital glaucoma. The authors describe the case of a 1-year-old male with the Rubinstein-Taybi syndrome associated with unilateral congenital glaucoma. The case emphasizes the importance of detailed complete ocular examinations in patients with Rubinstein-Taybi syndrome, and also highlights the occurrence of ocular abnormalities rarely associated with this disease.
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PMID:[Goniodysgenesis associated with Rubinstein-Taybi syndrome]. 1093 97

A 70-year-old man was referred to us with a 2-year, progressive, painless decrease in visual acuity in the right eye. Ocular history included extraction of a traumatic cataract with a transclerally fixated posterior chamber intraocular lens. Slitlamp examination showed a raised, white, vascularized mass covering the cornea. The lesion was removed by superficial lamellar keratectomy. Light microscopy examination confirmed the diagnosis of corneal keloid. These uncommon lesions usually develop in adults after corneal traumas, surgery, or inflammatory processes. They have also been described in children with Lowe's syndrome, Rubinstein-Taybi syndrome, and other ocular developmental disorders.
J Cataract Refract Surg 2004 Apr
PMID:Corneal keloid: clinical, ultrasonographic, and ultrastructural characteristics. 1509 64