儿童青光眼：遗传咨询的意义。

IF 2.9 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2024-08-29 DOI:10.1111/cge.14603

Giorgina Maxwell, Emmanuelle Souzeau

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引用次数: 0

摘要

儿童青光眼是一组异质性的眼部疾病，发病年龄从出生到 18 岁不等。这些威胁视力的疾病需要早期诊断、及时治疗和终生管理，以维持视力并尽量减少不可逆转的失明。儿童青光眼的遗传学非常复杂，既有表型上的异质性，也有遗传上的异质性。本综述旨在总结不同类型的儿童青光眼及其遗传结构，以帮助对患者及其家属进行遗传咨询。我们概述了相关综合征，并讨论了遗传咨询的意义，包括遗传检测策略、级联遗传检测和生育选择。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Childhood glaucoma: Implications for genetic counselling

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Childhood glaucoma: Implications for genetic counselling

Childhood glaucoma is a heterogeneous group of ocular disorders defined by an age of onset from birth to 18 years. These vision-threatening disorders require early diagnosis, timely treatment, and lifelong management to maintain vision and minimise irreversible blindness. The genetics of childhood glaucoma is complex with both phenotypic and genetic heterogeneity. The purpose of this review is to summarise the different types of childhood glaucoma and their genetic architecture to aid in the genetic counselling process with patients and their families. We provide an overview of associated syndromes and discuss implications for genetic counselling, including genetic testing strategies, cascade genetic testing, and reproductive options.

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来源期刊

Clinical Genetics 医学-遗传学

CiteScore

6.50

自引率

0.00%

发文量

175

审稿时长

3-8 weeks

期刊介绍： Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease