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November 1993

A New Syndrome of Myelinated Nerve Fibers, Vitreoretinopathy, and Skeletal Malformations

Author Affiliations

From The Johns Hopkins Center for Hereditary Eye Diseases (Dr Traboulsi), the Vitreo-Retinal Service (Drs Lim and Haller), The Wilmer Ophthalmological Institute (Dr Goldberg), and the Department of Medical Genetics (Dr Pyeritz), The Johns Hopkins Hospital, Baltimore, Md.

Arch Ophthalmol. 1993;111(11):1543-1545. doi:10.1001/archopht.1993.01090110109034

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.

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