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- W2063730271 abstract "<h3>Objective</h3> To determine the refractive error in patients with autosomal recessive retinitis pigmentosa (arRP) caused by <i>RP1</i> mutations and to compare it with that of other genetic subtypes of RP. <h3>Methods</h3> Twenty-six individuals had arRP with <i>RP1</i> mutations, 25 had autosomal dominant RP (adRP) with <i>RP1</i> mutation, 8 and 33 had X-linked RP (xlRP) with <i>RP2</i> and <i>RPGR</i> mutations, respectively, 198 and 93 had Usher syndrome and arRP without <i>RP1</i> mutations, respectively. The median of the spherical equivalent (SE) and the IQR (Q25–Q75) was determined and multiple comparisons were performed. <h3>Results</h3> arRP patients with <i>RP1</i> mutations had SE median at −4.0 dioptres (D) OD (Ocula Dextra); −3.88 D OS (Ocula Sinistra), whereas arRP patients without <i>RP1</i> mutations (−0.50 D OD; −0.75 D OS) and Usher syndrome patients (−0.50 D OD; −0.38 D OS) were significantly less myopic (p<0.0001). Conversely, myopia of xlRP patients with either an <i>RPGR</i> mutation (−4.50 D OD; −5.25 D OS) or an <i>RP2</i> mutation (−6.25 D OD; −6.88 D OS) was not significantly different from the arRP group with <i>RP1</i> mutations. arRP without <i>RP1</i> mutations, Usher syndrome and adRP with <i>RP1</i> mutation had a narrow IQR (−9.06 to −1.13 D), whereas arRP with <i>RP1</i> mutations and xlRP with <i>RP2</i> or <i>RPGR</i> mutations had a larger range (−9.06; −1.13 D). <h3>Conclusions</h3> arRP patients with <i>RP1</i> mutations have myopia not different from patients with xlRP with <i>RP2</i> or <i>RPGR</i> mutations, while RP patients from other genetic subgroups were emmetropic or mildly myopic. We suggest that arRP patients with high myopic refractive error should be preferentially analysed for <i>RP1</i> mutations." @default.
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- W2063730271 date "2015-04-16" @default.
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- W2063730271 title "Autosomal recessive retinitis pigmentosa with<i>RP1</i>mutations is associated with myopia" @default.
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- W2063730271 doi "https://doi.org/10.1136/bjophthalmol-2014-306224" @default.
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