Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study.
Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study.
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DOI：
10.1016/j.ophtha.2016.10.022
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发表时间：
2017-03
期刊：
影响因子：
13.7
通讯作者：
Morgan JI
中科院分区：
文献类型：
--
作者：
Aleman TS;Han G;Serrano LW;Fuerst NM;Charlson ES;Pearson DJ;Chung DC;Traband A;Pan W;Ying GS;Bennett J;Maguire AM;Morgan JI
详细描述一大群无脉络膜症（CHM）患者的视网膜中央结构。前瞻性、横断面、描述性研究。包括CHM患者（n=97，年龄6-71岁）和视力正常的受试者（n=44;年龄10-50岁）。受试者进行了检查，光谱域光学相干断层扫描（SD-OCT）和近红外反射成像。视力（VA）是在他们的遭遇或获得最近的眼科检查。在一个患者子集（n=24）中，使用SD-OCT检查的中心区域（±15°）内的自动静态视野计测量视觉阈值。VA和视觉阈值，总、内和外核层（ONL）厚度，以及ONL和感光细胞外段（POS）交错区的水平范围。在正常出现RPE的区域中，最早的异常是与视杆功能障碍相关的POS和EZ区的丢失。从相对保存的视网膜到严重ONL变薄和视网膜内层增厚的过渡区（TZs）随年龄向中心移动。大多数患者（88%）保持VA优于20/40，直到他们的第五个十年的生活。VA下降与中央凹中心附近的TZ迁移一致。在大多数（69%）患者的退变、非萎缩性视网膜中存在外视网膜管。一般而言，视网膜色素上皮（RPE）异常导致感光细胞变性，尽管存在可检测到但异常薄的ONL与严重的RPE色素脱失和脉络膜变薄共定位的区域。中枢神经系统的异常最早见于POS的缺失和视杆细胞功能障碍。中心凹功能相对保留，直到晚期疾病。TZ迁移到中心凹中心，中心凹变薄和结构紊乱预示着中心VA损失。建立的关系可能有助于概述的资格标准和结果的措施，为CHM的临床试验。与视杆细胞功能障碍相关的光感受器外段异常是在无脉络膜症中观察到的最早异常。中央凹中心附近过渡区的迁移预示着中心视力丧失。
To describe in detail the central retinal structure of a large group of patients with Choroideremia (CHM). prospective, cross-sectional, descriptive study. Patients (n=97, age 6-71 years) with CHM and subjects with normal vision (n=44; ages 10-50 years) were included. Subjects were examined with spectral domain optical coherence tomography (SD-OCT) and near infrared reflectance imaging. Visual acuity (VA) was measured during their encounter or obtained from recent ophthalmic examinations. Visual thresholds were measured in a subset of patients (n=24) with automated static perimetry within the central regions (±15°) examined with SD-OCT. VA and visual thresholds, total, inner and outer nuclear layer (ONL) thicknesses, and the horizontal extent of the ONL and of the photoreceptor outer segment (POS) interdigitation zone. Earliest abnormalities in regions with normally appearing RPE were the loss of the POS and EZ zone associated with rod dysfunction. Transition zones (TZs) from relatively preserved retina to severe ONL thinning and inner retinal thickening moved centripetally with age. Most patients (88%) retained VAs better than 20/40 until their fifth decade of life. VA decline coincided with migration of the TZ near the foveal center. There were outer retinal tubulations in degenerated, non-atrophic retina in the majority (69%) of patients. In general, retinal pigment epithelium (RPE) abnormalities paralleled photoreceptor degeneration, although there were regions with detectable but abnormally thin ONL co-localizing with severe RPE depigmentation and choroidal thinning. Abnormalities of the POS and rod dysfunction are the earliest central abnormalities observed in CHM. Foveal function is relatively preserved until late disease. TZ migration to the foveal center with foveal thinning and structural disorganization heralded central VA loss. The relationships established may help outline the eligibility criteria and outcome measures for clinical trials for CHM. Precis Photoreceptor outer segment abnormalities associated with rod dysfunction were the earliest abnormalities observed in choroideremia. Migration of transition zones near the foveal center heralded central vision loss.