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

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

Research output: Contribution to journalArticle

4 Citations (Scopus)

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
Externally publishedYes

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Urogenital Abnormalities
Eye Abnormalities
Microphthalmos
Retinal Dysplasia
Blepharoptosis
Agenesis of Corpus Callosum
X-Linked Genes
Hypospadias
Cryptorchidism
Brain
Optic Nerve
Intellectual Disability
Cataract
Pregnancy

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Ocular findings in a new heritable syndrome of brain, eye, and urogenital abnormalities. / Duker, J. S.; Weiss, J. S.; Siber, M.; Bieber, F. R.; Albert, Daniel.

In: American journal of ophthalmology, Vol. 99, No. 1, 01.01.1985, p. 51-55.

Research output: Contribution to journalArticle

Duker, J. S. ; Weiss, J. S. ; Siber, M. ; Bieber, F. R. ; Albert, Daniel. / Ocular findings in a new heritable syndrome of brain, eye, and urogenital abnormalities. In: American journal of ophthalmology. 1985 ; Vol. 99, No. 1. pp. 51-55.
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