Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches.
Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches.
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DOI：
10.1038/s41433-020-0974-1
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发表时间：
2021-03
期刊：
影响因子：
--
通讯作者：
Moosajee M
中科院分区：
文献类型：
--
作者：
Hagag AM;Mitsios A;Narayan A;Abbouda A;Webster AR;Dubis AM;Moosajee M
探讨脉络膜血症（CHM）患者视网膜的变化，以确定年龄、结构和功能之间的相关性。这项前瞻性纵向研究纳入了13名男性CHM患者的26只眼睛。参与者被分为年龄<50岁（n = 8）和≥50岁（n = 5）两组。患者分别在基线、6个月和1年随访。采用光学相干断层扫描（OCT）、OCT血管造影和眼底自体荧光测量中央中央凹（CFT）和中央凹下脉络膜厚度（SCT），以及保留的脉络膜毛细血管（CC）、椭球区（EZ）和自体荧光（PAF）区域。患者还接受了功能检查，包括视力（VA）、对比敏感度（CS）、颜色测试、显微视野测量、暗适应测量和手持式视网膜电图（ERG）。使用NEI-VFQ-25问卷评估视力相关生活质量。在1年的随访期间，SCT、EZ、CC、PAF和CFT均出现了进行性损失。年龄≥50岁的患者SCT、EZ、CC和PAF表现出更多的结构和功能缺陷，与患者年龄有很强的相关性（rho≤- 0.47,p≤0.02）。CS和VA没有随年龄变化，但CS与年龄显著相关（rho = - 0.63, p = 0.001）。在所有患者中均观察到延迟至无法测量的暗适应，颜色辨别能力下降和未检测到的ERG活动。≥50岁组在一年内观察到最小的功能恶化，总体趋势是进展缓慢。定量结构参数包括SCT、CC、EZ和PAF对CHM的疾病监测最有用。需要长期的随访研究来确定纵向功能变化。
To investigate the retinal changes in choroideremia (CHM) patients to determine correlations between age, structure and function. Twenty-six eyes from 13 male CHM patients were included in this prospective longitudinal study. Participants were divided into <50-year (n = 8) and ≥50-year (n = 5) old groups. Patients were seen at baseline, 6-month, and 1-year visits. Optical coherence tomography (OCT), OCT angiography, and fundus autofluorescence were performed to measure central foveal (CFT) and subfoveal choroidal thickness (SCT), as well as areas of preserved choriocapillaris (CC), ellipsoid zone (EZ), and autofluorescence (PAF). Patients also underwent functional investigations including visual acuity (VA), contrast sensitivity (CS), colour testing, microperimetry, dark adaptometry, and handheld electroretinogram (ERG). Vision-related quality-of-life was assessed by using the NEI-VFQ-25 questionnaire. Over the 1-year follow-up period, progressive loss was detected in SCT, EZ, CC, PAF, and CFT. Those ≥50-years exhibited more structural and functional defects with SCT, EZ, CC, and PAF showing strong correlation with patient age (rho ≤ −0.47, p ≤ 0.02). CS and VA did not change over the year, but CS was significantly correlated with age (rho = −0.63, p = 0.001). Delayed to unmeasurable dark adaptation, decreased colour discrimination and no detectable ERG activity were observed in all patients. Minimal functional deterioration was observed over one year with a general trend of slower progression in the ≥50-years group. Quantitative structural parameters including SCT, CC, EZ, and PAF are most useful for disease monitoring in CHM. Extended follow-up studies are required to determine longitudinal functional changes.
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DOI：
10.1016/j.oret.2017.07.022
发表时间：
2018-04
期刊：
Ophthalmology. Retina
影响因子：
--
作者：
Hagag AM;Pechauer AD;Liu L;Wang J;Zhang M;Jia Y;Huang D
通讯作者：
Huang D
影响因子：
4.4
作者：
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DOI：
10.1097/iae.0b013e3182215ae9
发表时间：
2012-04
期刊：
Retina (Philadelphia, Pa.)
影响因子：
--
作者：
Genead MA;McAnany JJ;Fishman GA
通讯作者：
Fishman GA
影响因子：
3.9
作者：
Genead, M. A.;Fishman, G. A.
通讯作者：
Fishman, G. A.
影响因子：
4.4
作者：
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MacDonald, Ian M.