[Fabry's disease in ophthalmology (author's transl)]

Area of Science:

• Ophthalmology
• Genetics
• Cell Biology

Background:

• Fabry's disease is an X-linked genetic disorder.
• It results from alpha-galactosidase A deficiency, leading to globotriaosylceramide accumulation.
• Ocular manifestations are key diagnostic indicators.

Observation:

• A new case of Fabry's disease is presented.
• Slit lamp examination easily identifies corneal opacities (cornea verticillata) in affected males and carrier females.
• Conjunctival biopsy and electron microscopy reveal characteristic lamellar inclusions within lysosomes.

Findings:

• Cornea verticillata is a readily detectable sign of Fabry's disease.
• Electron microscopy confirms lysosomal lamellar bodies, consistent with glycolipid storage.
• The X-linked inheritance pattern explains the prevalence in males and heterozygotes.

Implications:

• Early diagnosis of Fabry's disease is facilitated by simple ophthalmological examination.
• Identifying cornea verticillata can prompt further genetic testing and timely treatment.
• Understanding ocular findings improves diagnostic strategies for this rare genetic condition.