Genetics of Age-Related Maculopathy

Oluwatoyin Fafowora and Michael B. Gorin

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

Genetics of Age-Related Maculopathy

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Studies of the molecular genetics of age-related maculopathy (ARM) have dramatically transformed our understanding of this condition and have served as a major success in the study of age-related complex disorders. This review is intended to provide a brief description of this condition, which is responsible for significant vision loss throughout the world, and to summarize the findings from genetic studies within the context of ARM biology, and their relevance to future therapy and public health issues.

ARM is a degenerative condition affecting the retina, pigment epithelium, and choriocapillaris of the eye with particular predilection to the macular area, which is responsible for central vision. The current clinical terminology for ARM is confusing at best for the uninitiated. The more commonly used name for the condition, age-related macular degeneration (AMD or ARMD), was originally defined as either the association of specific ocular changes with vision loss of 20/40 or worse,1 or those clinical findings that were associated with vision loss (20/40 or worse) that could be specifically attributed to AMD.2 However, over time, clinicians have increasingly used the term for retinal changes that are not necessarily associated with vision loss. “Age-related maculopathy” covers the full spectrum of the disease and was adopted by many of those investigating the genetics of this condition since pre- or asymptomatic family members are very useful in genetic studies.3 In addition, a number of investigations have relied upon the masked grading of retinal photographs to determine a control or case status for the disease, without consideration of the visual acuity. The authors of this chapter prefer to use the term “age-related maculopathy.”

Chapter.  27697 words. 

Subjects: Clinical Genetics ; Ophthalmology

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