Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations.
Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations.
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DOI：
10.1167/iovs.16-19890
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发表时间：
2016-09-01
影响因子：
4.4
通讯作者：
Cideciyan AV
中科院分区：
文献类型：
--
作者：
Jacobson SG;McGuigan DB 3rd;Sumaroka A;Roman AJ;Gruzensky ML;Sheplock R;Palma J;Schwartz SB;Aleman TS;Cideciyan AV
以前，RHO突变和a类表型的患者被发现有严重的早发性视杆功能丧失，而B类表型的患者至少在某些视网膜区域保留了视杆功能。在这里，B类患者在不同的疾病阶段进行研究，以了解表型的地形细节，为这种区域化视网膜病变的治疗做准备。本研究采用视杆视锥和光学相干断层扫描（OCT）对一组RHO突变和B类表型患者（n = 28，年龄10-80岁）进行了研究。在这些横断面研究中，至少确定了表型的三个组成部分。患者可能出现半视野功能障碍、中央周围功能丧失或整个视野的弥漫性视棒敏感性丧失。这些不同模式的组合也被发现。共定位的光感受器层厚度与心理物理结果一致。这些具有严重程度区域性视网膜变异的疾病需要在入组临床试验之前进行预评估，以寻求视网膜中适合进行局部治疗的问题的答案，以及对于视网膜全范围治疗策略，应监测视网膜中治疗效果（或安全性）的位置。
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).
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影响因子：
13.7
作者：
Birch, David G.;Locke, Kirsten G.;Felius, Joost;Klein, Martin;Wheaton, Dianna K. H.;Hoffman, Dennis R.;Hood, Donald C.
通讯作者：
Hood, Donald C.
影响因子：
4.4
作者：
Jacobson, Samuel G.;Aleman, Tomas S.;Kimberling, William J.
通讯作者：
Kimberling, William J.
影响因子：
17.8
作者：
Guadagni, Viviana;Novelli, Elena;Strettoi, Enrica
通讯作者：
Strettoi, Enrica
DOI：
10.1073/pnas.1509914112
发表时间：
2015-10-27
影响因子：
11.1
作者：
Beltran, William A.;Cideciyan, Artur V.;Aguirre, Gustavo D.
通讯作者：
Aguirre, Gustavo D.
影响因子：
--
作者：
FISHMAN, GA;STONE, EM;SHEFFIELD, VC
通讯作者：
SHEFFIELD, VC