Background/aims Female choroideremia carriers present with a spectrum of disease severity. Unlike in men, the rate of disease progression has not been well characterised in carriers. This longitudinal study aimed to determine the rate of retinal degeneration in choroideremia carriers, using multimodal imaging and microperimetry. Methods Choroideremia carriers previously seen at Oxford Eye Hospital (United Kingdom) between 2012 and 2017 returned for testing between 2015 and 2023, providing up to 11 years’ follow-up data. Participants had optical coherence tomography, fundus-tracked microperimetry and fundus autofluorescence (FAF) imaging performed. Results Thirty-four eyes of 17 choroideremia carriers were examined using multimodal imaging. Median age was 44 (range: 15–73) years at baseline and median follow-up duration was 7 (range: 1–11) years. At baseline, phenotype was classified as fine (n=5 eyes), coarse (n=13 eyes), geographic (n=12 eyes) or male pattern (n=4 eyes). Thirteen patients showed no change in phenotype classification, four showed slight changes associated with choroideremia-related retinal degeneration. Despite this, carriers with severe retinal phenotypes had a statistically significant decline in average retinal sensitivity (−0.7 dB and −0.8 dB per year, respectively, p<0.001), area of geographic loss defined by FAF (+2.5 mm2 and +3.7 mm2 per year, respectively, p<0.001) and thinning of the photoreceptor complex (up to −2.8 microns and −10.3 microns per year, p<0.001). Conclusion Choroideremia carriers, particularly those with severe retinal phenotypes, exhibit progressive retinal degeneration, as evident by multimodal imaging biomarkers and functional testing. Clinicians should not rely on retinal severity classification alone to assess disease progression. No data are available.

中文翻译：

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使用多模态视网膜成像对女性无脉络膜血症携带者进行纵向评估


背景/目标 女性无脉络膜血症携带者具有一系列疾病严重程度。与男性不同，携带者的疾病进展速度尚未得到很好的表征。这项纵向研究旨在利用多模态成像和微视野测定法确定无脉络膜血症携带者的视网膜变性率。方法 2012 年至 2017 年期间在英国牛津眼科医院就诊的无脉络膜症携带者于 2015 年至 2023 年返回进行检测，提供长达 11 年的随访数据。参与者进行了光学相干断层扫描、眼底追踪微视野检查和眼底自发荧光（FAF）成像。结果使用多模态成像对 17 名无脉络膜血症携带者的 34 只眼睛进行了检查。基线时中位年龄为 44（范围：15-73）岁，中位随访时间为 7（范围：1-11）年。在基线时，表型被分类为细型（n=5 只眼）、粗型（n=13 只眼）、地理型（n=12 只眼）或男性型（n=4 只眼）。 13 名患者的表型分类没有变化，4 名患者表现出与无脉络膜血症相关的视网膜变性相关的轻微变化。尽管如此，具有严重视网膜表型的携带者的平均视网膜敏感性（每年分别为-0.7 dB和-0.8 dB，p<0.001）、FAF定义的地理损失面积（+2.5 mm2和+3.7 mm2）在统计学上显着下降。每年分别，p<0.001）和感光复合体变薄（每年达到-2.8微米和-10.3微米，p<0.001）。结论 无脉络膜血症携带者，特别是那些具有严重视网膜表型的携带者，表现出进行性视网膜变性，多模态成像生物标志物和功能测试证明了这一点。 临床医生不应仅依靠视网膜严重程度分类来评估疾病进展。无可用数据。