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)

We describe a child with Fukuyama type congenital muscular dystrophy (FCMD) who had several ocular manifestations since birth. These included high myopia, strabismus, nystagmus and optic atrophy of both eyes. Later he developed retinal detachment of both eyes. Our survey of 33 cases with FCMD revealed that high myopia and optic atrophy are common in FCMD. Retinal detachment was reported in two cases in addition to the present one and was considered to be of developmental origin. The association of congenital muscular dystrophy with brain changes and ocular anomalies were found in FCMD, muscle, eye and brain disease (MEB) and Walker-Warburg syndrome (WWS). Ocular manifestations in FCMD were, in general, less severe than those in WWS or MEB. Our study suggests that FCMD, MEB and WWS are developmental abnormalities with a continual spectrum of disease severity.
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PMID:Ocular manifestations in Fukuyama type congenital muscular dystrophy. 224 Apr 63

Walker-Warburg syndrome, also known as HARD+/-E, is a congenital autosomal recessive disorder characterized by hydrocephalus, agyria, and retinal dysplasia, with or without encephalocele. The authors describe an infant with Walker-Warburg syndrome who presented with microphthalmia, retinal detachment, and leopard spot retinopathy.
J Pediatr Ophthalmol Strabismus 2009 Oct 02
PMID:Walker-Warburg Syndrome Manifesting as Leopard Spot Retinopathy, Retinal Detachment, and Microphthalmia. 1979 10