Ocular Manifestations Of Fabry Disease: A Case Series From A Multidisciplinary Referral Centre

To describe ocular manifestations in patients with Fabry disease, a rare X-linked lysosomal storage disorder, and to emphasise characteristic corneal and retinal findings identified during routine ophthalmic examinations.

This single-centre observational case series was conducted at a multidisciplinary referral centre. Patients hospitalised in the Department of Nephrology within a specialised therapeutic programme underwent routine ophthalmic evaluation during admission.

Five patients with genetically confirmed Fabry disease underwent ophthalmic assessment during hospitalisation. Comprehensive ocular examination included slit-lamp biomicroscopy and dilated fundus evaluation.

Cornea verticillata, characteristic of Fabry keratopathy, was observed in the majority of patients and was typically bilateral. The distinctive whorl-shaped pattern in the corneal epithelium was clearly evident on slit-lamp biomicroscopy. Retinal vascular abnormalities, including vessel tortuosity, were identified. No acute vision-threatening complications were noted at the time of assessment.

Fabry disease, although rare, commonly presents with characteristic ocular findings that may serve as visible markers of systemic involvement. The corneal and retinal abnormalities detected during routine ophthalmic examination highlight the important role of ophthalmic evaluation in multidisciplinary patient management.