Figure 1. Family 1 with compound heterozygote for c.3460T>A (p.C1154S) and c.4207G>C (p.E1403Q) in the CRB1 gene. A: The pedigree of family 1. The filled symbols represent affected individuals and unfilled symbols unaffected individuals.
Squares signify men, and circles women. An arrow marks the index patient; + means a normal allele. B: Representative sequence chromatograms for the proband (right) and his normal parents (left). C–D: Fundus examinations in the 35-year-old proband showed attenuation of retinal arterioles, numerous pigment deposits, and
RPE degeneration mainly in the temporal quadrant and the posterior pole.