Molecular Genetics of Primary Congenital Glaucoma

Roshanak Sharafieh, Anne H. Child and Mansoor Sarfarazi

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

Molecular Genetics of Primary Congenital Glaucoma

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Primary congenital glaucoma (PCG) is the pediatric form of glaucoma, diagnosed from birth to 3 years of age. It represents between 1% and 5% of all glaucoma cases, with prevalence rates ranging from 1/1,250 to 1/22,000 depending on the population and proportion of parental consanguinity in the geographic region.

It has been suggested that PCG results from malformation of the anterior chamber angle with enlarged beams in the trabecular meshwork. Consequently, there is less area for aqueous humor outflow, leading to increased intraocular pressure (IOP). Since this affliction is present early in life, it is crucial that it is detected early to limit vision loss.

Over the past decade, significant progress has been made in molecular genetics of PCG. Herein we review some advances in understanding the genetics of this debilitating disorder.

Chapter.  14300 words.  Illustrated.

Subjects: Clinical Genetics ; Ophthalmology

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