In Vivo Corneal Confocal Microscopy 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. Confocal microscopy showed hyperreflectivity of the cytoplasm, making the nuclei more visible than in normal eyes. Skin biopsy confirmed the diagnosis of mucolipidosis type IV.

Related Post