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ABSTRACT
Ocular features of Gaucher disease include gaze abnormalities, corneal clouding, ocular deposits and pigmentary changes in the macula. We report the presence of bilateral fovea sparing macular deposits in a 21-year-old woman with type 3 Gaucher disease. Macular deposits occur due to glucocerebroside accumulation within histiocytes and retinal deposits might correlate with the degree of systemic infiltration.
Acknowledgments
The authors thank Natalie Cook, Ophthalmic Photographer, Royal Free London Hospitals NHS Trust for retinal images.
Disclosure statement
The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the article.