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. 2017 Jan 27;49(4):216–229. doi: 10.1152/physiolgenomics.00096.2016

Fig. 2.

Fig. 2.

Pedigree and phenotype of 2 siblings with ABCA4 and RPE65 mutations. A: Segregation of the homozygous mutation (c.5882G>A; p.Gly1961Glu) in the ABCA4 gene and compound heterozygous mutation (c.746A>G; p.Tyr249Cys and c.1451G>A; p.Gly484Asp) in RPE65 gene. *Individuals who underwent whole exome sequencing. Clinical features of patient III-I at 34 yr and patient III-II at 30 yr. B1 and C1: fundus photos; B2 and C2: Goldmann visual fields; pink lines indicate the V4e isopter and blue lines show the I4e isopter. B3 and C3: SD-OCT. Black lines on color and infrared fundus photos indicate location of SD-OCT scans. Patients show heterogeneous, irregular retinal pigment epithelial pigmentation in the macula with relative preservation around the fovea; SD-OCT shows normal outer retinal layers at the fovea and in the central 10 degrees; visual fields demonstrate relative constriction of the I4e isopter with preserved peripheral visual fields to the V4e target.