[Ocular findings in a peculiar type of mucolipidosis called nephrosialidosis]

Clinical, histological and ultrastructural findings are described in a male infant presenting a peculiar type of mucolipidosis called nephrosialidosis. This disease is characterized by a sialidase deficiency and a severe glomerular nephropathy. The ocular pathology provides the principal features of the disease showing both mucopolysaccharidic and glycolipidic storage.