Ocular findings in a new heritable syndrome of brain, eye, and urogenital abnormalities

J. S. Duker, J. S. Weiss, M. Siber, F. R. Bieber, D. M. Albert

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

We studied the clinical and histopathologic ocular findings in four related males with a newly recognized syndrome consisting of microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadias, and cryptorchidism with X-linked recessive inheritance. The ocular abnormalities include microphthalmos, corneal pannus and hypoplasia, cataracts, uveal hypoplasia, retinal dysplasia, optic nerve hypoplasia, and congenital blepharoptosis. In case 4, a female twin who died in utero (at 15 weeks' gestation) showed none of the ocular abnormalities.

Original languageEnglish (US)
Pages (from-to)51-55
Number of pages5
JournalAmerican journal of ophthalmology
Volume99
Issue number1
DOIs
StatePublished - Jan 1 1985

ASJC Scopus subject areas

  • Ophthalmology

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