Figure 1. Family pedigrees. Shown are 12 families segregating IRD and additional systemic diseases. Filled symbols represent affected individuals, whereas clear symbols represent unaffected individuals. A double line represents consanguinity. Patients recruited for this study are marked by numbers. In mutation names, * represents a termination codon. +, wild-type (wt) allele; m, mutant allele; RP, retinitis pigmentosa; HL, hearing loss; FMF, familial Mediterranean fever; DI, diabetes insipidus; CGD, chronic granulomatous disease; ARB, autosomal recessive bestrophinopathy; ID, intellectual disability; CRD, cone-rod dystrophy; PCD, primary ciliary dyskinesia; CSNB, congenital stationary night blindness.