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 studied the abnormal ocular and systemic findings in one case of true triploidy and two cases of triploid mosaicism. A liveborn triploid child 69,XXY, had abnormalities including cebocephaly, a single midline nostril, incomplete cleft palate, transverse palmar creases, partial syndactyly, and ambiguous genitalia. Ocular abnormalities included hypotelorism, blepharophimosis, microcornia, iris coloboma, cataract, persistent hyaloid vasculature, retinal dysplasia, and optic atrophy. A 16-year-old girl with triploid mosaicism had congenital left facial and body hemiatrophy, both growth and mental retardation, left-sided grand mal seizures, incontinentia pigmenti of both legs, partial syndactyly, and generalized weakness. Results of her ocular examination were within normal limits. A 13-year-old boy with triploid mosaicism exhibited both growth and mental retardation, truncal obesity, and required a brace to support his back. Ocular findings included synophrys, bilateral blepharoptosis, and abnormal results of Schirmer tear test. Studies indicate a wide spectrum of ocular and systemic abnormalities occur that are presumably associated with the chromosome error.
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PMID:Ocular findings in triploidy. 41 37

A girl with a progeroid appearance, with prominent occiput, blepharophimosis, cataract, arthrogryposis of the upper limbs and severe pulmonary stenosis is described. She died aged less than 6 months. An older sister was born 3 years before with the same appearance and underwent the same fatal evolution. The clinical appearance of this reported patient is compared to the previously published cases with severe neonatal progeroid syndromes.
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PMID:Clinical manifestation of a severe neonatal progeroid syndrome. 913 87

A 15-year-old girl with retinitis pigmentosa, blepharophimosis, blue dot cataract and primary overaction of inferior oblique muscle in both the eyes is being reported. Computerized search using Medline did not reveal any such previously reported association.
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PMID:Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction: a new syndrome complex? 1858 5

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disease. It is clinically characterized by four major features; blepharophimosis, ptosis, epicanthus inversus, and telecanthus. We report a case of a 1-year-old female with BPES with unilateral anterior persistent fetal vasculature (PFV). On examination, she was found to have all the clinical features of BPES, along with calcified and partially absorbed cataract with elongated ciliary processes in her left eye. B-scan of left eye showed attached retina with no evidence of posterior PFV. Systemic examination was normal. She underwent cataract surgery with primary posterior capsulotomy with intraocular lens implantation under general anesthesia. Literature search did not reveal any previous reports of unilateral anterior PFV and BPES. The clinical features, other associations, and the difficulties in the surgical management of this condition are discussed.
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PMID:Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge. 2748 60