Vitreoretinal degeneration in spondyloepiphyseal dysplasia congenita.

Abstract

Eighteen patients had ocular changes associated with spondyloepiphyseal dysplasia congenita, a rare cause of congenital dwarfism with normal mental development. Seven patients had nonprogressive 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.

• Authors: S Hamidi-Toosi, I H Maumenee
• Journal: Archives of ophthalmology (Chicago, Ill. : 1960) (Arch Ophthalmol) Vol. 100 Issue 7 Pg. 1104-7 (Jul 1982) ISSN: 0003-9950 [Print] United States
• PMID: 6807266 (Publication Type: Case Reports, Journal Article)

Topics

• Adolescent
• Adult
• Child
• Child, Preschool
• Diagnosis, Differential
• Female
• Humans
• Male
• Mucopolysaccharidosis IV (diagnosis, pathology, physiopathology)
• Refractive Errors (physiopathology)
• Retinal Degeneration (pathology, physiopathology)
• Visual Acuity
• Vitreous Body (pathology)