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Article

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

Progress in retinal and eye research - 1 May 2025

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40274012
DOI: 10.1016/j.preteyeres.2025.101359
PMCID: PMC12646286

Genes

BAP1
NF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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