[Congenital lens malformations].

IF 0.8 4区 医学 Q4 OPHTHALMOLOGY
Teresa Neuhann, Lukas Neuhann
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引用次数: 0

Abstract

Congenital malformations of the eye lens encompass a broad spectrum of developmental disorders, including lens opacities (congenital cataract), shape abnormalities, and dislocation (lens luxation). The vast majority of these malformations are genetically determined and can occur either in isolation or as part of complex syndromes. Modern molecular genetic diagnostic methods now enable the identification of underlying genetic causes in many patients, allowing for prognostic assessments and insights into potential comorbidities. This article provides an overview of the different forms of congenital lens malformations, their genetic causes, and the significance of molecular genetic diagnostics for the clinical care of affected patients.

先天性晶状体畸形。
先天性晶状体畸形包括多种发育障碍,包括晶状体混浊(先天性白内障)、形状异常和脱位(晶状体脱位)。这些畸形绝大多数是由基因决定的,可以单独发生,也可以作为复杂综合征的一部分发生。现代分子遗传诊断方法现在能够识别许多患者的潜在遗传原因,允许预后评估和潜在合并症的见解。本文概述了不同形式的先天性晶状体畸形,其遗传原因,以及分子遗传学诊断对患者临床护理的意义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
1.30
自引率
0.00%
发文量
235
审稿时长
4-8 weeks
期刊介绍: -Konzentriertes Fachwissen aus Klinik und Praxis: Die entscheidenden Ergebnisse der internationalen Forschung - für Sie auf den Punkt gebracht und kritisch kommentiert, Übersichtsarbeiten zu den maßgeblichen Themen der täglichen Praxis, Top informiert - breite klinische Berichterstattung. -CME-Punkte sammeln mit dem Refresher: Effiziente, CME-zertifizierte Fortbildung, mit dem Refresher, 3 CME-Punkte pro Ausgabe - bis zu 36 CME-Punkte im Jahr!. -Aktuelle Rubriken mit echtem Nutzwert: Kurzreferate zu den wichtigsten Artikeln internationaler Zeitschriften, Schwerpunktthema in jedem Heft: Ausführliche Übersichtsarbeiten zu den wichtigsten Themen der Ophthalmologie – so behalten Sie das gesamte Fach im Blick!, Originalien mit den neuesten Entwicklungen, Übersichten zu den relevanten Themen.
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