Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa

Figure 2

Disease progression patterns in retinitis pigmentosa patients carrying variants of four major causative genes. Disease progression patterns in (a) EYS-related RP: coarse pigmentation around the major vascular arcades and peripheral EZ disruption concomitant with peripheral VF constriction; (b) PDE6B-related RP: a bull’s eye pattern of FAF consistent with paracentral scotoma. CME was frequently observed. (c) RP1-related RP: peripheral demarcated hyperautofluorescence lines and aggregation of pigments concomitant with a paracentral ring-shaped scotoma in the VF were characteristic features of AD RP1-RP. Perivascular pigmentation with macular atrophy was prominent in AR RP1-RP. (d) USH2A-related RP: fine pigmentation around the vascular arcade combined with paracentral scotoma in the VF. An ERM was found frequently. The images are presented in order of increasing patient age. RP, retinitis pigmentosa; EZ, ellipsoid zone; VF, visual field; CME, cystoid macular edema; ERM, epiretinal membrane; AD, autosomal dominant; AR, autosomal recessive; Fd, fundus photography; FAF, fundus autofluorescence; SD-OCT, spectral-domain optical coherence tomography, HVF, Humphrey visual field test, GVF; Goldmann visual field test.

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