Inventors:
Andras Simon - Stockholm, SE
Ulf Eriksson - Stockholm, SE
Thaddeus Dryja - Boston MA, US
Eliot Berson - Boston MA, US
International Classification:
C12N009/04, C12P007/40, C07H021/04, C12P021/02, C12N005/06
US Classification:
435/190000, 536/023200, 435/069100, 435/136000, 435/325000, 435/320100
Abstract:
The invention relates to mutations in the gene encoding 11-cis retinal dehyrogenase. The mutations in the gene and in the resulting encoded protein are correlated to ocular disorders, such as fundus albipunctatus.