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[Retinal pigment anomalies associated with Fabry's disease]
D Jourdel1, S Defoort-Dhellemmes, P Labalette
1Service d'Exploration de la Vision, CHRU, Hôpital Cl. Huriez, Lille.
Journal Francais D'Ophtalmologie
|March 3, 1999
Summary
Fabry disease, an X-linked disorder, presents with characteristic ocular signs like corneal opacities and cataracts. Ocular abnormalities are key indicators for diagnosing Fabry disease in affected individuals.
Area of Science:
- Ophthalmology
- Genetics
- Rare Diseases
Background:
- Fabry disease is an X-linked genetic disorder.
- It is characterized by ocular, skin, and kidney lesions.
Observation:
- A case of an 18-year-old male with angiokeratomas and pain attacks was investigated.
- Ocular findings included whorl-like corneal opacities, posterior spoke-like cataracts, and conjunctival vessel tortuosity.
- The patient's mother exhibited similar ocular signs.
Findings:
- Fluorescein fundus angiography revealed specific retinal manifestations.
- Peripheral retinal pigment epithelium abnormalities were observed, distinct from typical vascular tortuosity.
- Ocular abnormalities are significant diagnostic indicators for Fabry disease in hemizygous and heterozygous patients.
Implications:
- Ocular findings play a crucial role in the early diagnosis of Fabry disease.
- Identifying specific retinal pigment epithelium changes may aid in understanding disease heterogeneity.
- Early diagnosis through ophthalmologic examination can lead to timely management of Fabry disease.