A family case of eye damage in mucopolysaccharidosis type VI

The article presents a description of a clinical case of eye damage in two children from the same family with mucopolysaccharidosis type VI. The girls, aged 10 and 6, had diffuse corneal opacity and uncompensated glaucoma in both eyes. Abnormal accumulation of glycosaminoglycans in organs and tissues in mucopolysaccharidosis leads to multiple organ failure. Glycosaminoglycans accumulate in the cornea, trabecular meshwork, sclera, and ganglion cells. The pathogenetic treatment is lifelong enzyme replacement therapy (naglazim), which can slow down the progression of the disease and reduce its manifestations. Keywords: mucopolysaccharidosis type VI, corneal opacitу, glaucoma