Identifying retinal disease genes: how far have we come, how far do we have to go?

Abstract excerpt

One of the great success stories in retinal disease (RD) research in the past decade has been identification of many of the genes and mutations causing inherited retinal degeneration. To date, more than 133 RD genes have been identified, encompassing many disorders such as retinitis pigmentosa, Leber congenital amaurosis, Usher syndrome and macular dystrophy. The most striking outcome of these findings is the...

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