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In Vivo Corneal Confocal Microscopy in Mucolipidosis Type IV by Gilles C. Martin; Antoinette Bernabe-Gelot; Eric Gabison is a Medicine article available to read on EtoBox.

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in Mucolipidosis Type IV A 7-year-old girl referred for a progressive bilateral visual impairment was found with a diffuse epithelial corneal infiltration appearing as small translucent vesicles (Fig A). Confocal microscopy showed hyperreflectivity of the cytoplasm of the superficial (Fig B) and basal corneal epithelial cells, making the nuclei more visible than in normal eyes (Fig C). This epithelial infiltration in a child of consanguineous union was suspicious for a lysosomal storage disease due to MCOLN1 mutation: mucolipidosis type IV. The skin biopsy confirmed this diagnosis, showing heterogeneous inclusions in the endothelial cells cytoplasm on electron microscopy (Fig D): multivesicular bodies (arrow), osmiophilic bodies (asterisks), and electron-empty vesicles (stars) (Magnified version of Fig A-D is available online at www.aaojournal.org).

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Author

Gilles C. Martin; Antoinette Bernabe-Gelot; Eric Gabison

Publisher

Elsevier BV

Published

2021

Language

EN

Field

Medicine (Health Sciences)