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

ABSTRACT:

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 ocular and systemic evaluations in two unrelated individuals with familial exudative vitreoretinopathy (FEVR)-like presentations and de novo DYRK1A variants. Genetic testing included whole genome sequencing with variant interpretation based on clinical guidelines.

Results

Patient 1 had a previously reported recurrent pathogenic DYRK1A variant [c.1282C>T; p.(Arg

SUBMITTER: Lin S 

PROVIDER: S-EPMC12312742 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature