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

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, hypospadius, 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.

journal_name

Am J Ophthalmol

authors

Duker JS,Weiss JS,Siber M,Bieber FR,Albert DM

doi

10.1016/s0002-9394(14)75866-0

subject

Has Abstract

pub_date

1985-01-15 00:00:00

pages

51-5

issue

1

eissn

0002-9394

issn

1879-1891

pii

S0002-9394(14)75866-0

journal_volume

99

pub_type

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