Spondyloepiphyseal dysplasia congenita: Light and electron microscopic studies of the eye

Timothy G. Murray, W. Richard Green, Irene H. Maumenee, Stephen E. Kopits

Research output: Contribution to journalArticle

Abstract

A 5-month-old infant with spondyloepiphyseal dysplasia congenita (SEDC) died after an anoxic episode. Ophthalmologic examination one month before death revealed marked myopia and a normal ophthalmoscopic examination, without evidence of retinal detachment, lattice degeneration, or vitreoretinal changes. On postmortem histopathologic and electron microscopic examination of the eyes, we found the vitreous to have central liquefaction, to be detached in multifocal areas, and exerting traction on the retina. The internal limiting membrane of the retina was thin throughout and displayed many areas of discontinuity. There were multiple areas of preretinal cellular proliferation and a few small areas of retinoschisis. Our observation of extensive vitreoretinal degeneration with traction of the retina indicates that eyes of patients with SEDC are at an increased risk for the development of retinal detachment.

Original languageEnglish (US)
Pages (from-to)407-411
Number of pages5
JournalArchives of ophthalmology
Volume103
Issue number3
DOIs
StatePublished - Mar 1985

ASJC Scopus subject areas

  • Ophthalmology

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