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This abstract is assigned to session Poster session in O'Bistro
Presentation typeOB - poster
TitleOriginal diagnosis of Central Cloudy Dystrophy of François revisited as corneal opacities in a F216Y/L444P variant of Gaucher disease
PurposeTo report a case of corneal opacities in a patient with Gaucher disease.
MethodsCase Report with slit-lamp photography and molecular analysis of the glucocerebrosidase gene.
ResultsOphthalmic evaluation in a 57-year-old Caucasian patient ruled out corneal opacities. Analysis of the glucocerebrosidase gene disclosed a heterozygous F216Y/L444P mutation. His two siblings known with the same disorder and mutations also show subnormal visual acuity, slightly hazy corneas and increased central corneal thickness. The corneal abnormalities were already seen at the age of 16, years before diagnosis of Gaucher disease was made. Professor François originally classified the corneal densities in this patient as central cloudy dystrophy. Corneal opacities are a rare but early sign of Gaucher disease.
ConclusionCorneal involvement in Gaucher disease is unique and limited to anecdotal case-reports. This is the first case to describe corneal deposits in a rare F216Y/L444P non neurogenic variant of Gaucher disease. The initial diagnosis of Central Cloudy Dystrophy of François was revisited after diagnosis of Gaucher disease was made.
Author 1
Last nameGEENS
DepartmentUZ Gent
Author 2
Last nameClaerhout
DepartmentUZ Gent
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