孟德尔肿瘤易感综合征伴眼部受累的遗传学和当前研究模型

IF 18.6 1区医学 Q1 OPHTHALMOLOGY

Progress in Retinal and Eye Research Pub Date : 2025-04-22 DOI:10.1016/j.preteyeres.2025.101359

Lola P. Lozano , Renato Jensen , Madeleine Jennisch , Narendra G. Pandala , Farzad Jamshidi , H. Culver Boldt , Budd A. Tucker , Elaine M. Binkley

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引用次数: 0

摘要

在这篇综述中，我们的目的是提供具有孟德尔遗传模式和眼部累及的遗传性肿瘤易感综合征的调查。我们将重点讨论von Hippel-Lindau病、1型神经纤维瘤病、nf2相关的神经鞘瘤病、结节性硬化症、视网膜母细胞瘤和BAP1肿瘤易感综合征。对于这六种疾病中的每一种，我们讨论了临床表现和分子病理生理。我们强调遗传学，目前的研究模式，和治疗的发展。在阅读完每个疾病章节后，读者应该了解疾病的临床表现、遗传原因和遗传模式，以及疾病建模和治疗的研究现状。

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Genetics and current research models of Mendelian tumor predisposition syndromes with ocular involvement

In this review, we aim to provide a survey of hereditable tumor predisposition syndromes with a Mendelian inheritance pattern and ocular involvement. We focus our discussion on von Hippel-Lindau disease, neurofibromatosis type 1, NF2-related schwannomatosis, tuberous sclerosis complex, retinoblastoma, and the BAP1 tumor predisposition syndrome. For each of the six diseases, we discuss the clinical presentation and the molecular pathophysiology. We emphasize the genetics, current research models, and therapeutic developments. After reading each disease section, readers should possess an understanding of the clinical presentation, genetic causes and inheritance patterns, and current state of research in disease modeling and treatment.

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来源期刊

Progress in Retinal and Eye Research 医学-眼科学

CiteScore

34.10

自引率

5.10%

发文量

期刊介绍： Progress in Retinal and Eye Research is a Reviews-only journal. By invitation, leading experts write on basic and clinical aspects of the eye in a style appealing to molecular biologists, neuroscientists and physiologists, as well as to vision researchers and ophthalmologists. The journal covers all aspects of eye research, including topics pertaining to the retina and pigment epithelial layer, cornea, tears, lacrimal glands, aqueous humour, iris, ciliary body, trabeculum, lens, vitreous humour and diseases such as dry-eye, inflammation, keratoconus, corneal dystrophy, glaucoma and cataract.