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

Authors

• E I Traboulsi
• J I Lim
• R Pyeritz
• H K Goldberg
• J A Haller

Publication/Presentation Date

11-1-1993

Abstract

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.

Volume

111

Issue

11

First Page

1543

Last Page

1545

ISSN

0003-9950

Published In/Presented At

Traboulsi, E. I., Lim, J. I., Pyeritz, R., Goldberg, H. K., & Haller, J. A. (1993). A new syndrome of myelinated nerve fibers, vitreoretinopathy, and skeletal malformations. Archives of ophthalmology (Chicago, Ill. : 1960), 111(11), 1543–1545. https://doi.org/10.1001/archopht.1993.01090110109034

Disciplines

Business Administration, Management, and Operations | Health and Medical Administration | Management Sciences and Quantitative Methods

PubMedID

8240111

Department(s)

Administration and Leadership

Document Type

Article