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A. S. Bernd, H. Jaegle, M. Wiesen, A. Messias, S. Kohl, B. Wissinger, E. Zrenner; The Phenotype in Patients With Mutations in the Rds/peripherin Gene. Invest. Ophthalmol. Vis. Sci. 2008;49(13):3100.
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© ARVO (1962-2015); The Authors (2016-present)
Mutations in the PRPH2 (RDS/Peripherin) gene can cause a broad spectrum of hereditary retinal dystrophies. The aim of this study is to investigate relations between single nucleotide mutations and various retinal dystrophy phenotypes in a thoroughly investigated RDS/Peripherin patient population.
A total of 31 individuals from 19 independent families carrying RDS/Peripherin mutations were studied retrospectively. Retinal phenotypes were characterized by clinical examination (visual acuity, slit lamp, funduscopy), visual field testing, Ganzfeld and multifocal electroretinography (ERG), electrooculography (EOG), and color vision testing (Panel D15).
Age of disease onset ranged between 12 to 61 years (median 30±16.42), age at examination was 51±18.27 years. Patients reported on reduced visual acuity (22), light sensititvity (16), nightblindness (2) or reduced night vision (2), and disturbed colour vision (12). 14 patients showed central scotomas in the visual field testing. Alterations were noted in scotopic (6) and photopic ERG (8). Funduscopy revealed macular pigment epithelium deteriorations in 21 patients. Of these 31 individuals, 27 showed distinct signs of retinal degenerations and the following clinical diagnosis could be confirmed: cone-rod dystrophy (5), cone dystrophy (5), rod-cone dystrophies (2), vitelliforme macula dystrophy (2), Stargardt disease (3), macula dystrophies including patients with age >65 years (8), central areolar choroidal dystrophy (1), and occult macular dystrophy (1). However, 4 mutation carriers did not show clinical signs of a retinal dystrophy at time of examination (median age 30±11.93 years).
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