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

T. G. Murray, W. R. Green, I. H. Maumenee and S. E. Kopits

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.