A new syndrome of myelinated nerve fibers, vitreoretinopathy, and skeletal malformations

E. I. Traboulsi, J. I. Lim, R. Pyeritz, H. K. Goldberg and J. A. Haller
Johns Hopkins Center for Hereditary Eye Diseases, Johns Hopkins Hospital, Baltimore, Md.

OBJECTIVE: To report a new vitreoretinopathy with high myopia, myelinated nerve fibers, and skeletal abnormalities. PATIENTS: A mother and daughter with a previously undescribed constellation of severe vitreoretinal degeneration with high myopia and extensive myelination of the retinal nerve fiber layer, and in addition, the daughter has limb reduction deformities. Vision was severely impaired in both patients and results of electroretinography indicated the presence of cone and rod dysfunction. CONCLUSION: This is a previously undescribed autosomal dominant vitreoretinopathy with congenital poor vision, vitreoretinal degeneration, myelinated nerve fibers, and skeletal deformities.