Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations

Figure 4

A pedigree of probable adRP with a novel RHO mutation. A family with a novel RHO mutation c.36delC is shown. II-5 in this family carried the heterozygote mutation, and her clinical phenotype was relatively mild with late onset at her age of 62. III-2 showed only marginal clinical signs of RP when she underwent clinical evaluations at the age of 44. A possible carrier of I-1 died before the age when the III-2 presented RP symptoms. Affected individuals are indicated as filled symbols, and an arrow indicates the proband in this family. Bottom images are fundus pictures of II-5.