Beschreibung:
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<jats:title>Purpose:</jats:title>
<jats:p>Quantitative analysis of hyperautofluorescent rings and progression in subjects with retinitis pigmentosa associated with retinitis pigmentosa GTPase regulator (<jats:italic toggle="yes">RPGR</jats:italic>) gene mutations.</jats:p>
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<jats:title>Methods:</jats:title>
<jats:p>Prospective observational study of 46 subjects. Ring area, horizontal and vertical diameter measurements taken from outer and inner ring borders. Intraobserver repeatability, baseline measurements, progression rates, interocular symmetry, and association with age and genotype were investigated.</jats:p>
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<jats:title>Results:</jats:title>
<jats:p>Baseline ring area was 11.8 ± 13.4 mm<jats:sup>2</jats:sup> and 11.4 ± 13.2 mm<jats:sup>2</jats:sup> for right and left eyes, respectively, with very strong interocular correlation (r = 0.9398; <jats:italic toggle="yes">P</jats:italic> < 0.0001). Ring area constriction was 1.5 ± 2.0 mm<jats:sup>2</jats:sup>/year and 1.3 ± 1.9 mm<jats:sup>2</jats:sup>/year for right and left eyes, respectively, with very strong interocular correlation (r = 0.878, <jats:italic toggle="yes">P</jats:italic> < 0.0001). Baseline ring area and constriction rate correlated negatively with age (r = −0.767; <jats:italic toggle="yes">P</jats:italic> < 0.0001 and r = −0.644, <jats:italic toggle="yes">P</jats:italic> < 0.0001, respectively). Constriction rate correlated strongly with baseline area (r = 0.850, <jats:italic toggle="yes">P</jats:italic> < 0.0001). Age, but not genotype, exerted a significant effect on constriction rates (<jats:italic toggle="yes">P</jats:italic> < 0.0001), with greatest rates of progression seen in younger subjects. An exponential decline overall was found.</jats:p>
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<jats:title>Conclusion:</jats:title>
<jats:p>This study provides disease-specific baseline values and progression rates together with a repeatability assessment of fundus autofluorescence metrics. Our findings can guide future treatment trials and contribute to the clinical care of patients with <jats:italic toggle="yes">RPGR</jats:italic>-associated retinitis pigmentosa.</jats:p>
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