Color Vision in Inherited Retinal Degenerations

遗传性视网膜变性中的色觉

• 批准号: 8737687
• 负责人: Brett Jeffrey
• 金额: $ 13.47万
• 依托单位: NATIONAL EYE INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8737687
• 关键词: Affect; Cells; Central Scotomas; Clinical Trials; Color; Color Visions; Data; Discrimination; Disease; Enrollment; Future; Genes; Goals; Institutional Review Boards; Methods; Natural History; Normal Range; Participant; Patients; Photoreceptors; Research; Retina; Retinal; Retinal Diseases; Severities; Severity of illness; Stimulus; Structure; System; Testing; Time; Vision Screening; Visual Acuity; Visual impairment; base; computerized; dyschromatopsia; inherited retinal degeneration; prospective; sample fixation; small molecule; volunteer

Inherited retinal degenerations (IRDs) are a major cause of severe visual impairment worldwide. Promising treatments for these diseases include gene-based, cell-based, and small molecule therapies. A hurdle to initiating clinical trials for IRDs is the lack of prospective natural history studies that have provided quantitative descriptions of changes in retinal structure and function over time. The long-term goal of our research is to develop quantitative methods for describing changes in retinal structure and function in IRDs and to use these methods in future prospective natural history studies and clinical trials for IRDs. Dyschromatopsia is common to all IRDs affecting the central retina. Color vision screening tests (e.g., Ishihara, D15) are poorly suited to quantitating the severity of dyschromatopsia in IRD. In contrast, the anomaloscope, a quantitative color test that uses a 2 deg stimulus is difficult for participants with central scotomas, unstable fixation, or poor visual acuity. The Cambridge Color Test (CCT) is based on the principles employed by all pseudoisochromatic tests (e.g., Ishihara), but this computerized system also provides detailed quantitative analysis of color vision. We have implemented a low vision version of the CCT (LvCCT) to quantitate color vision in participants with reduced visual acuities and central scotoma. Based on these preliminary data, we hypothesize that the CCT and LvCCT are sufficiently sensitive and robust to detect and quantitate clinically meaningful changes in color vision in IRDs. To examine this proposal, we will explore the following aims: Specific Aim 1: Examine the sensitivity of the CCT and LvCCT to disease severity in IRD patients by comparing color vision status with changes in retinal structure and function. Specific Aim 2: Examine the effects of eccentric fixation and reduction in visual acuity on the color discrimination thresholds obtained with the CCT and LvCCT. Specific Aim 3: Establish normal ranges for the CCT and LvCCT and determine the inter-session and intra-session variabilities for these two tests. This study was recently approved by the NEI IRB. We have started to enroll normal volunteers to anwer Specific aims 2 and 3.

遗传性视网膜变性（IRD）是全世界严重视力障碍的主要原因。这些疾病的有前景的治疗方法包括基于基因、细胞和小分子的疗法。启动 IRD 临床试验的一个障碍是缺乏前瞻性自然历史研究，这些研究能够定量描述视网膜结构和功能随时间的变化。我们研究的长期目标是开发描述 IRD 视网膜结构和功能变化的定量方法，并将这些方法用于未来 IRD 的前瞻性自然史研究和临床试验。 色盲是影响中央视网膜的所有 IRD 的常见现象。色觉筛查测试（例如 Ishihara、D15）不太适合量化 IRD 色盲的严重程度。 相比之下，异常镜（使用 2 度刺激的定量颜色测试）对于有中心暗点、注视不稳定或视力不佳的参与者来说是困难的。剑桥色彩测试 (CCT) 基于所有伪等色测试（例如 Ishihara）所采用的原理，但该计算机化系统还提供色觉的详细定量分析。我们实施了 CCT (LvCCT) 的低视力版本来量化色觉 视力下降和中心暗点的参与者。基于这些初步数据，我们假设 CCT 和 LvCCT 足够灵敏和稳健，可以检测和定量 IRD 中具有临床意义的色觉变化。为了审查该提案，我们将探讨以下目标： 具体目标 1：通过比较色觉状态与视网膜结构和功能的变化，检查 CCT 和 LvCCT 对 IRD 患者疾病严重程度的敏感性。 具体目标 2：检查偏心注视和视力下降对 CCT 和 LvCCT 获得的颜色辨别阈值的影响。 具体目标 3：建立 CCT 和 LvCCT 的正常范围，并确定这两项测试的会话间和会话内变异性。 这项研究最近获得了 NEI IRB 的批准。 我们已经开始招募普通志愿者来回答具体目标2和3。