This group of ocular pathologies presents a high degree of genetic and clinical heterogeneity with a stationary or progressive disease development. Reported isolated or syndromic forms follow an autosomal dominant, autosomal recessive or X-linked Mendelian inheritance pattern. More than 350 genes causing this group of pathologies are known. Mutations in the same gene can cause different diseases.
The complete DBGen panel analyzes 363 genes and 161 pathogenic variants located in non coding regions that cause the most common retinal dystrophies and other visual pathologies.
12 – 14 weeks