Hereditary and Clinical Features of Retinitis Pigmentosa in Koreans

Abstract

There has been no report about hereditary and clinical features of retinitis pigmentosa (RP) in Koreans. To evaluate these, data were collected from 365 RP patients including age, gender, visual acuity (VA), spherical equivalent (SE) of refractive errors, funduscopic findings, color vision test, visual field score (VFS) obtained from Goldmann perimetry, and the inheritance patterns from pedigrees. Simplex RP was the most common inheritance pattern (61.9%); followed by autosomal recessive RP (17.3%), autosomal dominant RP (12.1%) and X-linked recessive RP (8.8%). Myopia was the most common refractive errors (77.5%) including 16.1% of high myopia. The most common cataract type was posterior subcapsular cataract (25.8%). Observed retinal findings included changes of retinal pigment epithelium (88.8%), bony spicule-like pigmentation (79.7%), attenuation of retinal vessel (76.2%), waxy disc pallor (12.6%), golden ring around optic disc (2.2%), epiretinal membrane (0.8%) and cystoid macular edema (0.5%). Corrected VA and refractive errors did not show any significant difference between the inheritance patterns. VFS was significantly worse in autosomal recessive RP than in autosomal dominant RP. Color vision defect was noted in 66.1% on Hardy-Rand-Rittlers color vision test. In conclusion, Korean RP patients have the indigenous hereditary and clinical features as well as the ordinary ones.