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.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):