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Delphine Blain, MS, MBA; Brian P. Brooks, MD, PhD

Arch Ophthalmol. 2007;125(2):196-203.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

INTRODUCTION

The science of genetics is impacting medicine at a rapid pace. Through efforts such as the Human Genome Project and the HapMap Project, our knowledge of the human genetic landscape is rapidly evolving.^1-2 The number of genes known to cause mendelian genetic disease in ophthalmology has greatly increased over the past decade (Figure 1).³ With the identification of mutations in complement factor H as a major risk factor for age-related macular degeneration, vision science is also at the forefront of tackling the problems of more common, complex diseases.^4-6

Figure appears in full text version. Figure 1. The number of cloned genes and genetic loci associated with inherited retinal disease as a function of time. Data and figure courtesy of Stephen P. Daiger, PhD, the University of Texas Health Science Center (http://www.sph.uth.tmc.edu/retnet/sum-dis.htm#D-graph).

The tools of genetic diagnosis, however, are not just for the laboratory . . . [Full Text of this Article]

GENETIC TESTING IN OPHTHALMOLOGY

Cytogenetics

DNA Sequence Analysis

GENETIC COUNSELING IN OPHTHALMOLOGY

Conceptual Framework

Possible Areas for Discussion

INTEGRATING MOLECULAR DIAGNOSIS IN YOUR PRACTICE

AUTHOR INFORMATION

Author Affiliations: National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Md (Ms Blain and Dr Brooks); and MedStar Research Institute, Hyattsville, Md (Ms Blain).

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