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阐明角膜营养不良的分子遗传基础:我们做到了吗?

Elucidating the molecular genetic basis of the corneal dystrophies: are we there yet?

作者信息

Aldave Anthony J, Sonmez Baris

机构信息

Cornea Service, Jules Stein Eye Institute, University of California-Los Angeles, 100 Stein Plaza, Los Angeles, CA 90095, USA.

出版信息

Arch Ophthalmol. 2007 Feb;125(2):177-86. doi: 10.1001/archopht.125.2.177.

Abstract

The identification of the genetic basis of approximately half of the corneal dystrophies in the past decade has resulted in significant advances in our understanding of the genetic control of corneal clarity and has provided clinicians with a definitive means to confirm or refute presumptive clinical diagnoses. This article serves as a guide to understanding the genetic basis of the corneal dystrophies and provides a revised anatomically based classification system that is intended for the clinician, who must possess a working knowledge of the molecular genetic basis of the corneal dystrophies to accurately diagnose, counsel, and manage the disease in affected patients.

摘要

在过去十年中,约半数角膜营养不良的遗传基础得以明确,这使我们对角膜透明度的遗传控制有了显著深入的理解,并为临床医生提供了一种确定手段,用以证实或推翻初步的临床诊断。本文旨在作为理解角膜营养不良遗传基础的指南,并提供一个基于解剖学的修订分类系统,该系统面向临床医生,他们必须具备角膜营养不良分子遗传基础的实用知识,以便准确诊断、为患者提供咨询并管理受影响患者的疾病。

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