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Stephen P. Daiger, PhD; Sara J. Bowne, PhD; Lori S. Sullivan, PhD

Arch Ophthalmol. 2007;125(2):151-158.

Exceptional progress has been made during the past two decades in identifying genes causing inherited retinal diseases such as retinitis pigmentosa. An inescapable consequence is that the relationship between genes, mutations, and clinical findings has become very complex. Success in identifying the causes of inherited retinal diseases has many implications, including a better understanding of the biological basis of vision and insights into the processes involved in retinal pathology. From a clinical point of view, there are two important questions arising from these developments: where do we stand today in finding disease-causing mutations in affected individuals, and what are the implications of this information for clinical practice? This perspective addresses these questions specifically for retinitis pigmentosa, but the observations apply generally to other forms of inherited eye disease.

Author Affiliations: Department of Ophthalmology and Visual Science, School of Medicine (Dr Daiger) and Human Genetics Center, School of Public Health (Drs Daiger, Bowne, and Sullivan), The University of Texas Health Science Center, Houston, Tex.

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