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[Retinal involvement in Gaucher's disease].
M J Gonzalez Rodriguez1, H Pintado Conde, C Lopez Nieto
1Service d'Ophtalmologie, Hôpital Juan Canalejo, La Coruña, Espagne.
Journal Francais D'Ophtalmologie
|January 1, 1992
Summary
Gaucher's disease causes sphingolipid buildup, leading to preretinal deposits. Systemic infiltration, not spleen removal, correlates with these eye findings, highlighting the importance of fundus examination.
Area of Science:
- Biochemistry
- Ophthalmology
- Genetics
Background:
- Gaucher's disease is a genetic disorder characterized by the accumulation of glucosylceramide in the reticuloendothelial system.
- Ocular manifestations, including preretinal infiltrates, are recognized complications.
- Previous studies suggested a link between splenectomy and increased frequency of these retinal deposits.
Observation:
- This study observed significant preretinal infiltrates in a Gaucher's disease patient with massive systemic infiltration.
- Notably, the patient had not undergone splenectomy.
- Bone marrow biopsy and CT scans confirmed widespread systemic involvement.
Findings:
- The presence of preretinal infiltrates in Gaucher's disease appears to be associated with the overall degree of systemic infiltration.
- Systemic involvement can lead to ocular manifestations even without spleen removal.
Implications:
- Ophthalmoscopic examination of the eye fundus is crucial for assessing Gaucher's disease progression.
- Understanding the correlation between systemic and ocular findings can aid in patient management and monitoring.
- This highlights the importance of a comprehensive diagnostic approach in Gaucher's disease.