Fig. 1

Pedigrees of the family, Sanger sequencing confirmation and Optical coherence tomography of the proband. a Pedigrees of the quartet families. b Optical coherence tomography of the proband reveals atrophy of the retina with epiretinal membrane and retina pigment epithelium irregularly arrangement. c Sanger sequencing confirmation in the quartet family. Heterozygous nucleotide and amino acid substitutions are shown at the top. Presence of the mutated alleles is indicated by a red asterisk