Abstract：
Cystoid macular lesions (CML) in inherited retinal diseases (IRDs) can contribute to vision impairment. Studying the morphologic range and outlier presentations of CML may inform clinical associations, mechanistic research, and trial design. Thus, we aim to describe the distribution of optical coherence tomography (OCT) parameters in IRD cases with CML and identify phenotype-genotype associations in very large cystoid macular lesions (VLCML).
This cross-sectional study retrieved clinical information from electronic records from January 2020 to December 2021. VLCML cases were identified using the robust distance (Mahalanobis) of the correlation between central foveal thickness (CFT) and total macular volume (TMV) and a 99.9% probability ellipse. The distribution of OCT parameters was calculated by genotype and phenotype.
We included 173 eyes of 103 subjects. The median age was 55.9 (interquartile range [IQR], 37.9, 63.7) and 47.6% (49/103) were females. Patients had disease-causing mutations in 30 genes. The most common genes included USH2A (n = 18), RP1 (n = 12), and ABCA4 (n = 11). Robust distance analysis showed that the prevalence of VLCML was 1.94% (n = 2 patients, 4 eyes). VLCML was seen in cases of NR2E3 (119-2A>C) and BEST1 (1120_1121insG) mutations. The median CFT in cases without VLCML was 269 µm (IQR 209, 318.50) while the median for VLCML cases was 1,490 µm (IQR 1,445.50, 1,548.00) (P < .001).
Subjects with different IRD genotypes may develop VLCMLs. Future studies could consider the range and outlier values of CML foveal thickness when determining inclusion criteria and biostatistical plans for observational and interventional studies.
This cross-sectional study retrieved clinical information from electronic records from January 2020 to December 2021. VLCML cases were identified using the robust distance (Mahalanobis) of the correlation between central foveal thickness (CFT) and total macular volume (TMV) and a 99.9% probability ellipse. The distribution of OCT parameters was calculated by genotype and phenotype.
We included 173 eyes of 103 subjects. The median age was 55.9 (interquartile range [IQR], 37.9, 63.7) and 47.6% (49/103) were females. Patients had disease-causing mutations in 30 genes. The most common genes included USH2A (n = 18), RP1 (n = 12), and ABCA4 (n = 11). Robust distance analysis showed that the prevalence of VLCML was 1.94% (n = 2 patients, 4 eyes). VLCML was seen in cases of NR2E3 (119-2A>C) and BEST1 (1120_1121insG) mutations. The median CFT in cases without VLCML was 269 µm (IQR 209, 318.50) while the median for VLCML cases was 1,490 µm (IQR 1,445.50, 1,548.00) (P < .001).
Subjects with different IRD genotypes may develop VLCMLs. Future studies could consider the range and outlier values of CML foveal thickness when determining inclusion criteria and biostatistical plans for observational and interventional studies.
摘要：
■遗传性视网膜疾病（IRD）中的黄斑囊样病变（CML）可导致视力障碍。研究CML的形态学范围和异常表现可以为临床关联提供信息。机械研究，和试验设计。因此，我们旨在描述IRD合并CML病例中光学相干断层扫描(OCT)参数的分布,并确定超大囊样黄斑病变(VLCML)的表型-基因型相关性.
■这项横断面研究从2020年1月至2021年12月的电子记录中检索了临床信息。使用中央凹厚度（CFT）与黄斑总体积（TMV）之间的相关性的稳健距离（Mahalanobis）和99.9％概率椭圆来识别VLCML病例。通过基因型和表型计算OCT参数的分布。
■我们包括103名受试者的173只眼睛。中位年龄为55.9(四分位距[IQR]，37.9、63.7）和47.6％（49/103）为女性。患者有30个基因的致病突变。最常见的基因包括USH2A（n=18），RP1（n=12），和ABCA4（n=11）。稳健距离分析显示VLCML的患病率为1.94%(n=2,4只眼睛）。在NR2E3(119-2A>C)和BEST1(1120_1121insG)突变的病例中可见VLCML。无VLCML病例的CFT中位数为269µm（IQR209,318.50），而VLCML病例的CFT中位数为1,490µm（IQR1,445.50,1,548.00）（P<.001）。
■具有不同IRD基因型的受试者可能会发展VLCML。未来的研究在确定纳入标准和生物统计学计划时，可以考虑CML中央凹厚度的范围和离群值。
■这项横断面研究从2020年1月至2021年12月的电子记录中检索了临床信息。使用中央凹厚度（CFT）与黄斑总体积（TMV）之间的相关性的稳健距离（Mahalanobis）和99.9％概率椭圆来识别VLCML病例。通过基因型和表型计算OCT参数的分布。
■我们包括103名受试者的173只眼睛。中位年龄为55.9(四分位距[IQR]，37.9、63.7）和47.6％（49/103）为女性。患者有30个基因的致病突变。最常见的基因包括USH2A（n=18），RP1（n=12），和ABCA4（n=11）。稳健距离分析显示VLCML的患病率为1.94%(n=2,4只眼睛）。在NR2E3(119-2A>C)和BEST1(1120_1121insG)突变的病例中可见VLCML。无VLCML病例的CFT中位数为269µm（IQR209,318.50），而VLCML病例的CFT中位数为1,490µm（IQR1,445.50,1,548.00）（P<.001）。
■具有不同IRD基因型的受试者可能会发展VLCML。未来的研究在确定纳入标准和生物统计学计划时，可以考虑CML中央凹厚度的范围和离群值。
