目的:女性脉络膜血症携带者存在一系列疾病严重程度。不像男人,疾病进展的速度在携带者中没有得到很好的表征。这项纵向研究旨在确定脉络膜血症携带者的视网膜变性率,使用多模态成像和显微视野。
方法:以前在2012年至2017年在牛津眼科医院(英国)就诊的脉络病携带者在2015年至2023年期间返回进行测试,提供了长达11年的随访数据。参与者进行了光学相干断层扫描,进行眼底追踪显微视野和眼底自发荧光(FAF)成像。
结果:使用多模态成像检查了17个脉络膜携带者的34只眼。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,表型分类为细(n=5眼),粗糙(n=13眼),地理(n=12眼)或男性模式(n=4眼)。13例患者表型分类无变化,4例显示与脉络膜血症相关的视网膜变性相关的轻微变化。尽管如此,患有严重视网膜表型的携带者的平均视网膜敏感性在统计学上有显着下降(每年-0.7dB和-0.8dB,分别,p<0.001),由FAF定义的地理损失面积(每年+2.5mm2和+3.7mm2,分别,p<0.001)和感光复合物的变薄(每年高达-2.8微米和-10.3微米,p<0.001)。
结论:脉络病携带者,特别是那些有严重视网膜表型的人,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。
OBJECTIVE: 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).
CONCLUSIONS: 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.