Author(s): Duker JS, Weiss JS, Siber M, Bieber FR, Albert DM. Ocular findings in a new heritable syndrome of brain, eye, and urogenital abnormalities. Am J Ophthalmol. 1985 Jan 15;99(1):51-5. PMID 3917610
Journal: American Journal Of Ophthalmology, Volume 99, Issue 1, Jan 1985
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.