• 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.
Hamidi-Toosi S, Maumenee IH. Vitreoretinal Degeneration in Spondyloepiphyseal Dysplasia Congenita. Arch Ophthalmol. 1982;100(7):1104-1107. doi:10.1001/archopht.1982.01030040082015