PRPH2

Peripherin 2 (RDS); structural glycoprotein of photoreceptor outer segment disc rims. Heterozygous mutations cause RP7 and various macular dystrophies (AD); homozygous mutations cause LCA18 (AR) with earlier onset retinal dystrophy.

Key Clinical Features

• 1Homozygous PRPH2 mutations cause LCA (AR), heterozygous cause RP7 (AD)
• 2Photoreceptor outer segment disc rim structural defect
• 3Prominent multilobulated central atrophic maculopathy
• 4Vessel narrowing and peripheral salt-and-pepper changes