Figure 1. Typical retinal phenotype in affected members A: Left fundus of proband showing temporal optic nerve pallor, attenuated retinal blood vessels, macular pigmentary and atrophic changes, and some fine pigment clumping outside the vascular arcade. B: Mid-transit fluorescein angiogram of left fundus of younger sister reveals a dark choroid sign with some retinal pigment epithelium (RPE) transmission defects in a perifoveal distribution. C and D: Right and left fundus photographs of younger sister at age 12 years show mottling of RPE in macular region but no flagrant pigmentary changes; there is slight temporal pallor of the optic nerve heads, especially in left eye.