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Article

DYRK1A syndrome presenting with a familial exudative vitreoretinopathy (FEVR)-like retinovascular phenotype.

Ophthalmic genetics - 1 Aug 2025

Lin Siying, Hay Eleanor, Thompson Dorothy A, Moosajee Mariya, Webster Andrew R, Mahroo Omar A, Henderson Robert H, Arno Gavin

Abstract excerpt

INTRODUCTION: The DYRK1A gene plays a crucial role in central nervous system development, with haploinsufficiency leading to DYRK1A-related intellectual disability syndrome. Ocular manifestations are common in DYRK1A syndrome and include refractive error, strabismus and optic nerve hypoplasia. Retinal involvement, however is less frequently reported and remains uncharacterised. METHODS: We conducted comprehensive...

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Identifiers

PMID: 40405340
DOI: 10.1080/13816810.2025.2503388
PMCID: PMC12312742

Genes

DYRK1A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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