Ornithine Aminotransferase Deficiency (OAT)

Ornithine aminotransferase deficiency is an autosomal recessive disorder caused by pathogenic variants in the gene OAT. While affected individuals have been reported worldwide, the disease has an increased prevalence in Sephardic Jewish individuals from Iraq and Syria and individuals of Finnish descent due to the presence of founder mutations. Clinical features include the onset of night blindness and myopia in the first decade of life, with progression to blindness in adulthood. Cataract development usually occurs in adolescence or early adulthood. Muscle abnormalities are also present, and some patients will have muscle weakness. Life expectancy and intelligence are normal. No genotype-phenotype correlation is known.

Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Ornithine Aminotransferase DeficiencyOAT1-8, 10 [10] (*7)ARWorldwide< 1 in 50080%0.000400641025641026
Ornithine Aminotransferase DeficiencyOAT1-8, 10 [10] (*7)ARFinnish1 in 147>95%0.000342348510783978
Ornithine Aminotransferase DeficiencyOAT1-8, 10 [10] (*7)ARSephardic Jewish – Iraqi and Syrian 1 in 177>95%0.000284010224368077