Ocular manifestations in DYRK1A mutation: a five-case series from South Korea

This study investigated the ocular manifestations in patients with a dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) mutation.

A retrospective chart review was conducted on five patients with a DYRK1A mutation who were referred to the Department of Ophthalmology for evaluation of ocular abnormalities. Data were collected through patient interviews, clinical examinations, and laboratory investigations. Ophthalmologic evaluations included best-corrected visual acuity, intraocular pressure, anterior segment examination, adnexal examination, and dilated fundus examination.

The mutation types included three nonsense mutations, one splice-site mutation, and one indel mutation. All five patients had exotropia. Two patients were diagnosed with amblyopia. Optic atrophy was present in four patients.

Ophthalmic abnormalities are commonly observed in patients with DYRK1A mutations. Comprehensive ophthalmologic evaluations are essential in patients with DYRK1A mutations to enable early detection and management of ocular anomalies and prevent potential visual impairment.