Leber Congenital Amaurosis 4 (AIPL1)

Leber congenital amaurosis 4 is an autosomal recessive disorder caused by pathogenic variants in the gene AIPL1. The onset of this condition occurs at birth or shortly after with nystagmus, severely impaired vision, vision loss, slow pupillary responses, photophobia, high hyperopia, and keratoconus. A milder form known as juvenile retinitis pigmentosa may also occur. The life expectancy and prevalence are unknown. No clear genotype-phenotype correlation has been established.

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

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