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Hereditary and Clinical Features of Retinitis Pigmentosa in Koreans

Cited 19 time in Web of Science Cited 19 time in Scopus
Authors
Lee, Sun Ho; Yu, Hyeong Gon; Seo, Jong Mo; Moon, Sang Woong; Kim, Sang Jin; Chung, Hum; Moon, Jun Woong
Issue Date
2010-06
Publisher
KOREAN ACAD MEDICAL SCIENCES
Citation
JOURNAL OF KOREAN MEDICAL SCIENCE; Vol.25 6; 918-923
Keywords
Eye Diseases, HereditaryRetinal DegenerationRetinitis PigmentosaKorean
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.
ISSN
1011-8934
Language
English
URI
http://hdl.handle.net/10371/77859
DOI
https://doi.org/10.3346/jkms.2010.25.6.918
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College of Medicine/School of Medicine (의과대학/대학원)Ophthalmology (안과학전공)Journal Papers (저널논문_안과학전공)
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