Figure 3 | Scientific Reports

Figure 3

From: Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

Figure 3

Fundus phenotype of three affected individuals of MOL1145 with a homozygous CDH3 mutation.

(A) Fundus appearance of individual III:3. At the age of 34 years, he demonstrates narrowed blood vessels, waxy pallor of the optic nerve, bone-spicule like pigmentations, typical for RP and severe macular atrophy. His brother III:4 (B) and sister III:6 (C) at the age of 30 and 33 respectively, demonstrated the same fundus appearance, but with less bone spicule-like pigmentations.

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