Article
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).
Molecular genetics and metabolism - 1 Jan 2000
Balfoort Berith M, Buijs Mark J N, Ten Asbroek Anneloor L M A, Bergen Arthur A B, Boon Camiel J F, Ferreira Elise A, Houtkooper Riekelt H, Wagenmakers Margreet A E M, Wanders Ronald J A, Waterham Hans R, Timmer Corrie, van Karnebeek Clara D, Brands Marion M
Abstract excerpt
Gyrate atrophy of the choroid and retina (GACR) is a rare inborn error of amino acid metabolism caused by bi-allelic variations in OAT. GACR is characterised by vision decline in early life eventually leading to complete blindness, and high plasma ornithine levels. There is no curative treatment for GACR, although several therapeutic modalities aim to slow progression of the disease by targeting different steps...
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