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Yang Li, Ke Xu, Ting Xiao, Xiaohui Zhang, Yue Xie; Sector Retinitis Pigmentosa caused by mutations of the RHO gene. Invest. Ophthalmol. Vis. Sci. 2018;59(9):5422. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
Sector retinitis pigmentosa (RP) is an atypical form of RP which just one or two quadrants of the retina are involved. The objective of this study was to report the results of molecular screening in five unrelated Chinese patients with sector RP and to describe the clinical features observed in patients with the mutations of RHO.
Five probands clinically diagnosed with sector RP were recruited for genetic analysis. They underwent ophthalmic examinations including best corrected visual acuity, fundus examination, visual field examinations, and electroretinography. A combination of molecular screening methods, including targeted next-generation sequencing and sanger–DNA sequencing of the RHO, were used to detect mutations.In silicoprograms were used to analyze the pathogenicity of all the variants.
Three different RHO missense mutations (p.T17M,p.L31Q, and p.G106R) were identified in the five unrelated probands. The novel mutation p.L31Q were detected in three unrelated probands.All patients showed bilateral and symmetrical retinal degenerations in the inferior retina and had a relatively good visual acuity. Patients with mutation p.L31Q showed phenotypic variability and variable penetrance.
Our results indicated that mutations of the RHO were more common in Chinese patients with sector RP. The RHO gene should be given priority during mutation screening analysis for Chinese patients with sector RP.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.
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