There have been dramatic advances in the elucidation of the genetic etiology of inherited eye diseases and their underlying pathophysiology in the last two to three decades. This was made possible by the exponential development of powerful molecular biology instrumentation and techniques, the completion of the human genome project, an increasing interest in the study of these diseases worldwide, and a push by the lay public to find cures for these rare but devastating conditions. The genes for a wide range of eye diseases have been identified and have led to a rethinking and a reclassification of disorders that is based not only on classical clinical signs, but also on underlying genetic etiology. Examples of these include the corneal dystrophies, rare forms of strabismus now designated as the cranial dysinnervation disorders, ocular malformations that result from mutations in transcription factors, cataracts that result from mutations in crystallins and other structural lens components, and finally retinal dystrophies that result from defects in phototransduction or visual cycle defects. This article is a perspective on recent advances in the field of ophthalmic genetics.
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