In Vivo Corneal Confocal Microscopy in Mucolipidosis Type IV

Gilles C Martin (1) , Antoinette Bernabe-Gelot (2, 3) , Eric Gabison (1)

1 Fondation Ophtalmologique Adolphe de Rothschild [Paris]
2 INMED - INSERM U1249 - Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université]
3 CHU Trousseau [APHP]

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)

Domaines: Neurosciences [q-bio.NC]

Gilles C Martin, Antoinette Bernabe-Gelot, Eric Gabison. In Vivo Corneal Confocal Microscopy in Mucolipidosis Type IV. Ophthalmology: Journal of The American Academy of Ophthalmology, 2021, 128 (4), pp.521. ⟨10.1016/j.ophtha.2020.11.003⟩. ⟨hal-03242685⟩