Structural and functional assessment of ocular findings in two female siblings with fabry disease: potential ophthalmic indicators and changes observed after enzyme replacement therapy — a case report and literature review

Fabry disease (FD) is an X-linked lysosomal storage disorder that can affect multiple organs, including the eye, and early identification of organ involvement is critical for timely treatment initiation. Ocular manifestations may serve as accessible, non-invasive indicators of disease involvement, particularly in female patients in whom treatment decisions can be challenging. The aim of this report is to present two preadolescent female patients with FD in whom detailed ophthalmologic evaluation contributed to the multidisciplinary assessment leading to treatment initiation. Both siblings had normal visual acuity and intraocular pressure, with clear lenses; cornea verticillata was present in both cases and was mild in Case 1. No conjunctival or retinal vascular abnormalities were detected on clinical examination. However, optical coherence tomography angiography (OCT-A) and functional electrophysiology revealed subtle retinal and visual pathway abnormalities potentially associated with FD. In conjunction with the genetic, biochemical, clinical, and familial findings, the ophthalmic findings provided additional evidence of possible early disease involvement and contributed to the multidisciplinary decision to initiate enzyme replacement therapy (ERT). Follow-up at 3.5 months showed changes toward normalization in electrophysiological parameters, while structural findings remained unchanged; however, these observations should be interpreted cautiously given the short follow-up period. This report highlights the potential value of ophthalmic findings as part of the comprehensive evaluation of FD. Structural and functional ocular changes may provide complementary information regarding disease involvement and longitudinal changes following ERT.