FUNDUS REFLECTOMETRY IN RETINITIS PIGMENTOSA

色素性视网膜炎的眼底反射测量

• 批准号: 3260851
• 负责人: SAMUEL GREGORY JACOBSON
• 金额: $ 9.74万
• 依托单位: UNIVERSITY OF MIAMI SCHOOL OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 1986
• 资助国家: 美国
• 起止时间: 1986-09-01 至 1992-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3260851
• 关键词: autosomal dominant trait; cone cell; congenital vision disorder; disease /disorder classification; electrooculography; eye disorder diagnosis; gene expression; heterozygote; human subject; molecular pathology; noninvasive diagnosis; perimetry; psychophysics; retinitis pigmentosa; rod cell

X-linked retinitis pigmentosa (XLRP) is a severe, rapidly progressive and incurable retinal degeneration. Molecular genetics research has recently prOvided evidence that there may be heterogeneity within XLRP. These different putative genotypes have shown no clear relation to the phenotypes defined by the only clinical classification scheme of XLRP currently in use. The studies in this proposal aim to provide a new classification scheme of XLRP based on abnormal retinal Mechanisms by examining hemizygotes and heterozygotes with non-invasive retinal function test techniques that have proven valuable in defining the different phenotypes Of autosomal dominant RP. Preliminary electrophysiological and psychophysical studies already indicate there are distinctly different patterns of retinal dysfunction in young XLRP hemizygotes. With full field electroretinography, there are two different relationships of rod- to cone-mediated dysfunction; and with rod and cone perimetry, these two patterns are confirmed and their regional retinal variations defined. Both functional phenotypes in XLRP hemizygotes show unique features when compared to the patterns of dysfunction in well-characterized retinal degenerations such as Types I and II RP and cone-rod dystrophy. Heterozygotes tested with rod and cone perimetry show patches of mild dysfunction with relationships of rod to cone abnormality like those in the hemizygotes. Examples of similar functional patterns in a heterozygote and hemizygote from the same family have been found. The proposed work is to extend these preliminary observations. Hemizygotes will be tested with rod and cone electroretinography, rod and cone perimetry and dark adaptometry to define the patterns of dysfunction and determine if they are consistent within pedigrees. Heterozygotes from the same pedigrees will be tested with rod and cone perimetry and adaptometry and the patterns of dysfunction compared with one another and with those in related hemizygotes to determine if the disease expression in the patchy retinopathy of the heterozygous state is representative of that in the hemizygotes.

X连锁性视网膜炎色素（XLRP）是一种严重的，快速进行的，并且 无法治愈的视网膜变性。分子遗传学研究最近已有 提供的证据表明XLRP内可能存在异质性。这些 不同推定的基因型与表型没有明显的关系 由XLRP当前唯一的临床分类方案定义 使用。该提案中的研究旨在提供新的分类 通过检查基于视网膜异常机制的XLRP方案 具有非侵入性视网膜功能测试的半合子和杂合子 证明在定义不同表型方面有价值的技术 常染色体显性rp。 初步的电生理学和心理物理研究已经 表明视网膜功能障碍有明显不同的模式 年轻的XLRP半合子。具有全场电视图，有两个 杆介导的功能障碍的不同关系；和杆 和锥体外，这两种模式得到了确认，其区域 定义的视网膜变化。 XLRP Hemizygotes中的两个功能表型 与功能障碍模式相比，显示独特的功能 特征良好的视网膜变性，例如I型和II RP，以及 锥杆营养不良。用杆和锥形周围测试的杂合子显示 杆与锥体异常的关系的轻度功能障碍的斑块 就像半合子中的那些一样。一个类似功能模式的示例 已经发现了同一家族的杂合子和半合子。 拟议的工作是扩展这些初步观察。半合子 将用杆和锥体电图，杆和锥体测试 周长和深色适应法，以定义功能障碍的模式和 确定它们是否在血统中保持一致。来自 相同的血统将用杆和锥体周围和适应测定法测试 和功能障碍的模式相比，与之相比 相关的半合子以确定斑块中的疾病表达是否表达 杂合状状态的视网膜病是代表该状态的 半合子。