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. 2014 Mar 26;20:359–367.

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Copyright © 2014 Molecular Vision.

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited, used for non-commercial purposes, and is not altered or transformed.

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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.