Genetic Basis of Nanophthalmos

纳米眼球的遗传基础

• 批准号: 6653877
• 负责人: Olof H Sundin
• 金额: $ 24.53万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2001
• 资助国家: 美国
• 起止时间: 2001-08-15 至 2006-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6653877
• 关键词: Mennonite; autosomal recessive trait; congenital eye disorder; developmental genetics; family genetics; gene expression; gene frequency; gene mutation; genetic disorder; genetic polymorphism; genetic screening; human genetic material tag; human population study; human subject; in situ hybridization; laboratory mouse; linkage mapping; nucleic acid sequence; orphan disease /drug; patient oriented research; polymerase chain reaction; vision disorders

DESCRIPTION (provided by applicant): Nanophthalmos is a rare developmental disorder in which the eye is much smaller than normal, and the retina is placed unusually close to the lens. The result of this is profound hyperopia (farsightedness) in the range of +8 to +24 diopters, a condition apparent at birth and maintained throughout life. The eye is formed intact and functional, typically without disorders elsewhere in the body. This is in contrast to microphthalmia, in which small eyes are associated with more serious structural malformations. The nanophthalmic eye exhibits a thick iris and a lens displaced towards the anterior chamber, features thought to contribute to the high incidence of angle closure glaucoma among these patients. Another characteristic of the disease is massive thickening of the choroid and sclera, which may be associated with a tendency of the eye to develop exudative retinal detachment, especially as a complication of glaucoma or cataract surgery. The disease is usually inherited as an autosomal recessive. There is also an autosomal dominant form of the disease, which has recently been mapped by genetic linkage to an interval on chromosome 11p. The identity of this gene remains unknown, and no locus has yet been reported for the recessive form of the disease. This application focuses on detailed linkage mapping and isolation of the gene for recessive nanophthalmos. Once this is accomplished, we will investigate its pattern of expression and the subcellular localization of the gene product. Identification of a gene for nanophthalmos would provide a starting point for the genetic diagnosis and rational development of treatments for this rare ocular disease. It also promises insights into the developmental mechanisms by which the eye normally regulates its size and shape in order to adjust its optical properties.

描述（由申请人提供）：纳米植物是一种罕见的发展 眼睛比正常小得多的疾病，放置视网膜 异常接近镜头。这是深刻的远视的结果 （远视）在+8至+24二极管的范围内，这种情况明显在 出生并在一生中保持。眼睛形成完整且功能性， 通常在体内其他地方没有疾病。这与 微观恐怖，其中小眼与更严重的结构相关 畸形。纳米脑眼的眼睛表现出浓密的虹膜和透镜的流离失所 朝前房间，被认为有助于高高的特征 这些患者的角度闭合青光眼的发生率。其他 该疾病的特征是脉络膜和巩膜的大量增厚， 这可能与眼睛趋于发展渗出性视网膜有关 脱离，特别是作为青光眼或白内障手​​术的并发症。这 疾病通常被遗传为常染色体隐性。还有一个 疾病的常染色体显性形式，最近已被绘制 遗传与11p染色体间隔的遗传联系。该基因的身份 仍然未知，尚无据报道 疾病。 该应用程序着重于详细的链接映射和基因的隔离 用于隐性纳米植物。一旦完成，我们将调查 基因产物的表达模式和亚细胞定位。 识别纳米果实基因的基因将为起点提供 这种罕见的治疗的遗传诊断和合理发展 眼病。它还承诺洞悉开发机制 眼睛通常调节其大小和形状以调整其 光学特性。