Eduardo Duarte Silva and Olof H. Sundin

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:

Series: Oxford Monographs on Medical Genetics


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  • Clinical Genetics
  • Ophthalmology


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Nanophthalmos is a rare developmental eye disorder that may be inherited in a sporadic, autosomal dominant and autosomal recessive fashion. Nanophthalmos is usually bilateral and symmetrical. Data derived from linkage studies of large pedigrees with nanophthalmos and the identification of genetic mutations as the cause of classic non-syndromic and syndromic (ODDD) nanophthalmos have helped elucidate the pathophysiology of these conditions.

Mutations in the MFRP gene cause autosomal recessive nanophthalmos. The genes associated with the dominant forms of the disease remain unknown. The MFRP gene encodes a glycosylated transmembrane protein with highly conserved domains and is expressed in the RPE and ciliary body. Patients lacking MFRP protein have no obvious-extraocular pathology, suggesting that its function is restricted to ocular development and physiology.15,21

The possibility of serious complications later in the course of disease makes a correct diagnosis of pivotal importance. This will allow the design and implementation of better therapeutic guidelines with improved outcomes in the management of nanophthalmos.

Chapter.  4401 words.  Illustrated.

Subjects: Clinical Genetics ; Ophthalmology

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