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Ulrich Kellner, Bernhard H. Weber, Britta S. Fiebig, Silke Weinitz, Simone Kellner; Visualizing The Onset of Retinitis Pigmentosa In Patients With Different Disease Severity Between Both Eyes. Invest. Ophthalmol. Vis. Sci. 2011;52(14):4978.
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© ARVO (1962-2015); The Authors (2016-present)
Retinal dystrophies usually present bilaterally with similar expression. The purpose of the present study is to evaluate retinal function and morphology in the better eye of 10 patients with retinitis pigmentosa presenting with a marked difference of disease expression between both eyes.
The patients underwent detailed clinical examination as well as full-field ERG recording (ISCEV standard; Retiport, Roland Consult, Germany) and retinal imaging (fundus autofluorescence (FAF), near-infrared autofluorescence (NIA), spectral domain optic coherence tomography SD-OCT; Spectralis HRA2 & OCT, Heidelberg Engineering, Germany).
The 10 patients (8 females, 2 males) were examined at ages between 21 and 60 years, clinical follow-up was available in 8 patients for 1-26 years. Retinitis pigmentosa was diagnosed based on full-field ERG and retinal imaging in the severely affected eyes of all patients. The disease expression in the better eye varied from normal functional and structural findings (n=6) to various stages of early (n=2) or regional disease (n=2) expression. The advantage of the full-field ERG is the evaluation of gross retinal function, whereas retinal imaging using FAF, NIA and SD-OCT facilitates the identification of affected retinal areas that may appear normal on ophthalmoscopy. Molecular genetic analysis detected mutations in the RPGR gene in 2 patients, and could not identify mutations in the RP2 and RPGR gene in 3 patients, in 4 remaining patients molecular genetic analysis is ongoing.
Variable retinal disease expression between both eyes provides a possibility to evaluate early symptomless stages of retinitis pigmentosa which usually do not come to the attention of the ophthalmologist. The combination of full-field ERG and non-invasive retinal imaging is important to detect retinal disease involvement in early stages of retinitis pigmentosa.
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