Vitreoretinal Degeneration in Spondyloepiphyseal Dysplasia Congenita

Eighteen patients had ocular changes associated with spondyloepiphyseal dysplasia congenita, a rare cause of congenital dwarfism with normal mental development. Seven patients had non-progressive myopia of 5.00 or more diopters. Vitreoretinal degeneration was encountered in six patients with high myopia, and vitreous syneresis was present in all patients. Corrected visual acuity was 20/50 or better in all patients. Retinal detachment was not encountered, although reports in the nonophthalmic literature claim up to 50% retinal detachment rate and poor visual prognosis in these patients.