Photo Essay: Retinal Changes in Type 3 Gaucher Disease |
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| Authors: | Shweta Anand Derralynn Hughes |
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| Affiliation: | 1. Department of Ophthalmology, Royal Free London Hospitals NHS Foundation Trust, London, UK;2. Department of Haematology, Royal Free London Hospitals NHS Foundation Trust, London, UK |
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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. |
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| Keywords: | Gaucher disease glycolipids retinal Gaucher cells |
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