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[Ocular findings in Fabry's disease]
Tomislav Kuzman1, Jelena Juri, Mirando Mrsić
1Klinika za ocne bolesti, Kliniki bolnicki centar Zagreb, Hrvatska.
Summary
Fabry disease, a genetic disorder, causes organ damage due to enzyme deficiency. Enzyme replacement therapy with recombinant alpha-Gal A effectively reversed pathology and improved patient symptoms.
Area of Science:
- Genetics and rare diseases
- Lysosomal storage disorders
- Enzyme replacement therapy
Background:
- Fabry disease is an X-linked genetic disorder caused by alpha-galactosidase A (alpha-Gal A) deficiency.
- This deficiency leads to glycosphingolipid accumulation, causing organ damage and characteristic symptoms like angiokeratoma and ocular signs.
- Early diagnosis and intervention are crucial for managing Fabry disease.
Observation:
- A male patient presented with proteinuria, erythrocyturia, skin changes, and acroparesthesias, suggestive of Fabry disease.
- Ocular examination revealed cornea verticillata and tortuotic retinal blood vessels.
- Significantly low alpha-Gal A enzyme activity confirmed the diagnosis.
Findings:
- Enzyme replacement therapy with recombinant alpha-Gal A (Fabrazyme) was initiated.
- The patient showed improved cardiac and renal function, enhanced heat tolerance, and overall well-being.
- Therapy effectively reversed disease pathology and eliminated glycolipid stores.
Implications:
- Ophthalmologists play a key role in early Fabry disease diagnosis through characteristic ocular findings.
- Increased awareness among ophthalmologists can facilitate the identification of undiagnosed patients.
- Early diagnosis and treatment are vital for preventing severe complications and improving patient outcomes.