Segregation analysis of ABCA4 for Case IDs 24 and 25. a Case ID: 24 shows no consanguinity between parents. The shaded symbol indicates the affected member, and the open symbols indicate the unaffected members. # - samples were included for genetic analysis. b Sanger results demonstrated that the proband harbored a homozygous mutation (c.C2987T) in ABCA4 exon-19. Segregation analysis represented that both the parents were carrier for c.C2987T variant. c Case ID: 25 shows consanguinity between parents. * - samples were included for genetic analysis. d Targeted exome sequencing results revealed two missense variants in ABCA4 exon 3 and 42. The disease-causing variants were further validated through Sanger-based method for proband and segregation analysis was performed for parents.