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. 2018 Jun 1;128(6):2177–2188. doi: 10.1172/JCI120429

Figure 2. RPE65-associated LCA2.

Figure 2

Mutations in the gene encoding RPE65 isomerase results in autosomal recessive LCA. This gene is largely active in the RPE and is responsible for the isomerization of all-trans-retinyl esters to 11-cis-retinyl esters, the rate-limiting step in the retinal visual cycle, and mutations in RPE65 result in RPE degeneration and photoreceptor death. Salt and pepper retinopathy and arteriole attenuation seen in a 28-year-old man with compound heterozygote mutations (c.11 + 5G > A) and (c.715T > G) in RPE65. Fundoscopy revealed optic disc pallor and a relatively spared macula. Note the absence of bone spicule–like pigmentation in the periphery.