Jacobson Samuel G, McGuigan David B, Sumaroka Alexander, Roman Alejandro J, Gruzensky Michaela L, Sheplock Rebecca, Palma Judy, Schwartz Sharon B, Aleman Tomas S, Cideciyan Artur V
Scheie Eye Institute Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States.
Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):4847-4858. doi: 10.1167/iovs.16-19890.
Previously, patients with RHO mutations and a class A phenotype were found to have severe early-onset loss of rod function, whereas patients with a class B phenotype retained rod function at least in certain retinal regions. Here class B patients were studied at different disease stages to understand the topographic details of the phenotype in preparation for therapies of this regionalized retinopathy.
A cohort of patients with RHO mutations and class B phenotype (n = 28; ages 10-80 years) were studied with rod and cone perimetry and optical coherence tomography (OCT).
At least three components of the phenotype were identified in these cross-sectional studies. Patients could have hemifield dysfunction, pericentral loss of function, or a diffuse rod sensitivity loss across the visual field. Combinations of these different patterns were also found. Colocalized photoreceptor layer thicknesses were in agreement with the psychophysical results.
These disorders with regional retinal variation of severity require pre-evaluations before enrollment into clinical trials to seek answers to questions about where in the retina would be appropriate to deliver focal treatments, and, for retina-wide treatment strategies, where in the retina should be monitored for therapeutic efficacy (or safety).
此前发现，携带RHO突变且具有A型表型的患者会出现严重的早发性视杆细胞功能丧失，而具有B型表型的患者至少在某些视网膜区域保留了视杆细胞功能。在此，对B型患者在不同疾病阶段进行研究，以了解该区域性视网膜病变表型的地形细节，为其治疗做准备。
对一组携带RHO突变且具有B型表型的患者（n = 28；年龄10 - 80岁）进行视杆细胞和视锥细胞视野检查以及光学相干断层扫描（OCT）。
在这些横断面研究中确定了该表型的至少三个组成部分。患者可能存在半视野功能障碍、中心周围功能丧失或整个视野弥漫性视杆细胞敏感度丧失。也发现了这些不同模式的组合。共定位的光感受器层厚度与心理物理学结果一致。
这些严重程度存在视网膜区域差异的疾病在纳入临床试验之前需要进行预评估，以解答关于视网膜的哪些部位适合进行局部治疗，以及对于全视网膜治疗策略，应在视网膜的哪些部位监测治疗效果（或安全性）的问题。
