A Novel GLA Gene Variant in Fabry Disease: Corneal Verticillata and Multimodal Ocular Imaging Findings

To report a case of Fabry disease (FD) in a female patient with a novel heterozygous deletion in the galactosidase A (GLA) gene.

A 35-year-old woman with a prior diagnosis of FD confirmed by genetic testing presented with eye irritation, progressive vision loss, and systemic symptoms. Comprehensive ophthalmologic evaluation included slit-lamp biomicroscopy, fundoscopy, visual field testing, optical coherence tomography (OCT), and OCT angiography (OCTA) of both posterior and anterior segments was performed.

Bilateral corneal verticillata was observed on slit-lamp examination. OCT and OCTA of the macula revealed intact retinal structures. Despite normal conjunctival and episcleral vessels on clinical examination, anterior segment OCTA showed mild conjunctival vessel tortuosity. Genetic testing of blood sample identified a novel heterozygous deletion frameshift mutation in the GLA gene (c.816delC, p.Phe273LeufsTer9). Systemic evaluations confirmed multiorgan involvement, including hypertension, renal microalbuminuria, cardiac abnormalities, pulmonary dysfunction, and hyperprolactinemia.

Corneal verticillata is a hallmark ocular finding in FD. Anterior segment OCTA can reveal subtle vascular abnormalities not detectable through routine examination. The identification of a novel GLA likely pathogenic variant expands the genetic spectrum of FD.