Fig 1. Pedigrees of six families discussed in detail in the manuscript.

The arrows indicate the patients in whom NGS was performed. Family number and disease-causing mutation(s) are noted above each pedigree. The diagnosis of the patient and the genotype for each mutation are listed below each individual´s symbol. LCA, Leber congenital amaurosis; BBS, Bardet Biedl syndrome; CRD, cone-rod dystrophy; RP, retinitis pigmentosa; ACHM, achromatopsia; ADOAC, autosomal dominant optic atrophy and cataract.