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.
Table 1.
RD mutations identified in our cohort.
Table 2.
Classification of all identified putative pathogenic mutations.
Table 3.
Distribution of involved genes in our RD cohort.