Leber congenital amaurosis (LCA) is one of the most severe retinal dystrophies beginning at infancy. It is characterized by loss of vision and other ocular problems such as nystagmus, amaurotic pupils, and photophobia. It is inherited following an autosomal recessive pattern. LCA explains 20% of cases of blindness in children, with a population incidence of 1:50,000 individuals.
The DBGen Leber Congenital Amaurosis Panel includes the genetic study of the coding regions of 38 genes and 32 pathogenic non coding variants.
12 – 14 weeks