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Mutations in the ABCR Gene are an Overwhelming Cause of Inherited Vision Loss

  September, 18 2000 15:21
your information resource in human molecular genetics
In the October issue of The American Journal of Human Genetics, two groups find evidence that mutations in the ABCR gene play an increasingly important role in retinal disease and vision loss. Although ABCR mutations have previously been associated with disorders of the retina, these papers indicate that ABCR is associated with an overwhelming proportion of the cases.

A wide range of eye problems has been associated with ABCR mutations, and these include Stargardt disease, a frequent and rapidly-progressive loss of the central field of vision; retinitis pigmentosa, a common vision disorder that causes night blindness and visual field constriction; cone-rod dystrophy, a vision disorder where the photoreceptors that detect color (cones) degenerate; and age-related macular degeneration, the most common cause of acquired visual impairment in the elderly. Although not much is known about the function of ABCR, it is becoming clear that even a mild disruption of the protein's activity will eventually lead to vision impairment. The implication that a single gene is responsible for such a wide range of retinal disorders makes it plausible that a single therapy, designed to replace ABCR activity, could alleviate or prevent retinal degeneration and vision loss in a substantial number of affected or at-risk individuals.

For the full text of an editorial article on this subject, please see "Simple and complex ABCR: Genetic predisposition to retinal disease" by Rando Allikmets on the electronic edition of the October issue of The American Journal of Human Genetics at www.ajhg.org.

For further information, contact Dr. Allikmets at Columbia University, Dept. of Ophthalmology, Eye Research Addition Rm. 715, 630 West 168th Street, New York, NY 10032. Phone: (212)305-8989. Fax: (212)305-7014. Email: rla22@columbia.edu.

Contributed by: Kate Beauregard, The American Journal of Human Genetics. Phone: (404)712-9985. Email: kbeaure@emory.edu

Message posted by: hhmi

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