Genetics and Current Research Models of Mendelian Tumor Predisposition Syndromes with Ocular Involvement

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

doi:10.1016/j.preteyeres.2025.101359

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Genetics and Current Research Models of Mendelian Tumor Predisposition Syndromes with Ocular Involvement

Journal article

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Genetics and Current Research Models of Mendelian Tumor Predisposition Syndromes with Ocular Involvement

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

Progress in retinal and eye research, Vol.106, 101359

05/2025

DOI: 10.1016/j.preteyeres.2025.101359

PMCID: PMC12646286

PMID: 40274012

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Abstract

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.

Cancer predisposition syndrome

Uveal melanoma

Inherited intraocular tumor

Mendelian inheritance

Retinoblastoma

Details

Title: Subtitle: Genetics and Current Research Models of Mendelian Tumor Predisposition Syndromes with Ocular Involvement
Creators: Lola P Lozano - University of Iowa
Renato Jensen - University of Iowa
Madeleine Jennisch - University of Iowa
Narendra G Pandala - University of Iowa
Farzad Jamshidi - University of Pittsburgh Medical Center
H Culver Boldt
Budd A Tucker
Elaine M Binkley
Resource Type: Journal article
Publication Details: Progress in retinal and eye research, Vol.106, 101359
DOI: 10.1016/j.preteyeres.2025.101359
PMID: 40274012
PMCID: PMC12646286
NLM abbreviation: Prog Retin Eye Res
ISSN: 1350-9462
eISSN: 1873-1635
Publisher: Elsevier
Grant note: Gilbert Family FoundationMSTP training grant: T32 GM139776
This work was supported by the Gilbert Family Foundation and the MSTP training grant T32 GM139776.
Language: English
Electronic publication date: 04/22/2025
Date published: 05/2025
Academic Unit: The University of Iowa Institute for Vision Research; Neuroscience and Pharmacology; Internal Medicine; Ophthalmology and Visual Sciences
Record Identifier: 9984813293302771

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