A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis.
A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis.
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DOI：
10.1167/iovs.18-23873
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发表时间：
2018-07-02
影响因子：
4.4
通讯作者：
Michaelides M
中科院分区：
文献类型：
--
作者：
Kumaran N;Rubin GS;Kalitzeos A;Fujinami K;Bainbridge JWB;Weleber RG;Michaelides M
rpe65相关Leber先天性黑朦（RPE65-LCA）是一种早发性严重视网膜营养不良伴进行性视野丧失的疾病。I/II期和III期基因治疗试验已经确定改善视网膜敏感性，但对RPE65-LCA视网膜敏感性的自然史知之甚少。19例受试者（年龄9 ~ 23岁）进行单目全视野静态视野测量，其中13例进行纵向监测。视网膜灵敏度以平均灵敏度（MS）测量，并使用视野建模和分析软件对总（VTOT）、中央30°（V30）和中央15°（V15）视野进行体积量化（以分贝-立体声）。评估视网膜敏感度与年龄、最佳矫正视力（BCVA）、对比敏感度、视力相关生活质量和基因型之间的相关性。并对重测信度进行了研究。V30分别与年龄、BCVA、对比敏感度有强、弱、中相关性。此外，V30与视觉相关生活质量问卷的移动性和独立性域存在弱线性关系。纵向分析表明，在这个队列中，视网膜敏感性的缓慢丧失。至少有一种RPE65无意义变异的受试者在生命的第二个十年中表现出比没有变异的受试者更大的视网膜敏感性进行性丧失。中央30°视野灵敏度的体积评估，V30，是一种有用的视网膜功能独立测量，在我们的数据中，代表了监测RPE65-LCA视网膜灵敏度恶化的最佳指标。此外，与基因型的功能相关性可能使预后咨询更加明智。（ClinicalTrials.gov号码：NCT02714816。）
RPE65-associated Leber congenital amaurosis (RPE65-LCA) is an early-onset severe retinal dystrophy associated with progressive visual field loss. Phase I/II and III gene therapy trials have identified improved retinal sensitivity but little is known about the natural history of retinal sensitivity in RPE65-LCA. A total of 19 subjects (aged 9 to 23 years) undertook monocular full-field static perimetry of which 13 subjects were monitored longitudinally. Retinal sensitivity was measured as mean sensitivity (MS) and volumetrically quantified (in decibel-steradian) using visual field modeling and analysis software for the total (VTOT), central 30° (V30) and central 15° (V15) visual field. Correlation was evaluated between retinal sensitivity and age, best-corrected visual acuity (BCVA), contrast sensitivity, vision-related quality of life, and genotype. Test-retest reliability was also investigated. V30 was identified to have a strong, weak, and moderate correlation with age, BCVA and contrast sensitivity respectively. Furthermore, V30 was identified as having a weak linear relationship with the mobility and independence domains of the vision-related quality of life questionnaire. Longitudinal analysis demonstrated a slow loss of retinal sensitivity in this cohort. Subjects with at least one RPE65 nonsense variant appeared to show greater progressive loss of retinal sensitivity in the second decade of life than those without. Volumetric assessment of central 30° visual field sensitivity, V30, is a useful independent measure of retinal function and, in our data, represented the best metric to monitor deterioration of retinal sensitivity in RPE65-LCA. Furthermore, functional correlation with genotype may enable more informed prognostic counseling. (ClinicalTrials.gov number, NCT02714816.)
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影响因子：
12.4
作者：
Pang, JJ;Chang, B;Hauswirth, WW
通讯作者：
Hauswirth, WW
影响因子：
3.9
作者：
Philpa, A. R.;Jin, M.;Li, S.;Schindler, E. I.;Iannaccone, A.;Lam, B. L.;Weleber, R. G.;Fishman, G. A.;Jacobson, S. G.;Mullins, R. F.;Travis, Gabriel H.;Stone, Edwin M.
通讯作者：
Stone, Edwin M.
影响因子：
--
作者：
Jacobson, Samuel G.;Cideciyan, Artur V.;Ratnakaram, Ramakrishna;Heon, Elise;Schwartz, Sharon B.;Roman, Alejandro J.;Peden, Marc C.;Aleman, Tomas S.;Boye, Sanford L.;Sumaroka, Alexander;Conlon, Thomas J.;Calcedo, Roberto;Pang, Ji-Jing;Erger, Kirsten E.;Olivares, Melani B.;Mullins, Cristina L.;Swider, Malgorzata;Kaushal, Shalesh;Feuer, William J.;Iannaccone, Alessandro;Fishman, Gerald A.;Stone, Edwin M.;Byrne, Barry J.;Hauswirth, William W.
通讯作者：
Hauswirth, William W.
影响因子：
6
作者：
Downing, SM
通讯作者：
Downing, SM
DOI：
10.1056/nejmoa1412965
发表时间：
2015-05-14
期刊：
The New England journal of medicine
影响因子：
--
作者：
Jacobson SG;Cideciyan AV;Roman AJ;Sumaroka A;Schwartz SB;Heon E;Hauswirth WW
通讯作者：
Hauswirth WW