Chapter

Familial Exudative Vitreoretinopathy, Norrie Disease, and other Developmental Retinal Vascular Disorders

Johane M. Robitaille, Duane L. Guernsey and Elias I. Traboulsi

in Genetic Diseases of the Eye, Second Edition

Second edition

Published on behalf of © Elias I. Traboulsi

Published in print January 2012 | ISBN: 9780195326147
Published online October 2012 | e-ISBN: 9780199975181 | DOI: http://dx.doi.org/10.1093/med/9780195326147.003.0035

Series: Oxford Monographs on Medical Genetics

Familial Exudative Vitreoretinopathy, Norrie Disease, and other Developmental Retinal Vascular Disorders

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Familial exudative vitreoretinopathy (FEVR) consists of a developmental anomaly of the retinal vasculature characterized by a failure of peripheral retinal vascularization. The onset of symptoms is usually in childhood, with the most severe cases showing advanced stages of FEVR at birth. Patients with Norrie disease classically present very early in life with bilateral retrolental masses, bilateral retinal folds, or retinal detachment. There is usually no perception of light. The globe may be initially of normal size but usually becomes phthisical in older patients. Mental retardation becomes apparent at an early age in some patients and is frequently significant and progressive. After an introduction to both conditions, the chapter discusses the histopathology, genetics, and phenotype-genotype correlation of both conditions, before looking at mouse models and related conditions and syndromes, and treatment.

Chapter.  11589 words.  Illustrated.

Subjects: Clinical Genetics ; Ophthalmology

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