To access the data, click or select the words “Appendix 1.” ^a Family was reported in Sharon et al. ^{4 b} Novel mutation ^c Family 8 appears twice in this table. Individual 1 (under solved families) is the mother of individuals 2 and 3 (under monoallelic families). All three are affected. Individual 1 is heterozygous for two different ABCA4 variants. Her offspring (individuals 2 and 3) are heterozygotes for one ABCA4 variant, and their second mutation is still to be found. ^d Families in which only one heterozygous mutant allele was identified, in a known IRD-causative gene which is inherited in an autosomal recessive mode. ACHM, achromatopsia; ar, autosomal recessive; ARB, autosomal recessive Bestrophinopathy; CRD, cone-rod dystrophy; F, female; het, heterozygous; hemi, hemizygous; hom, homozygous; HL, hearing loss; i, isolated; LCA, Leber congenital amaurosis; M, male; MD, macular dystrophy; ND, not done; PD, pattern dystrophy; RD, retinal dystrophy; RP, retinitis pigmentosa; ss, short stature; STGD, Stargardt disease; T-NGS, targeted next generation sequencing; USH, Usher syndrome; WES, whole exome sequencing; XL, X-linked