[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.
D002675:Child, Preschool; D003318:Corneal Opacity / Q000150:complications; D005128:Eye Diseases / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications; D007674:Kidney Diseases / Q000150:complications*; D008297:Male; D009081:Mucolipidoses / Q000150:complications*; D009439:Neuraminidase / Q000172:deficiency*; D009896:Optic Atrophy / Q000150:complications; D010024:Osteoporosis / Q000150:complications; D010375:Pedigree; D012164:Retinal Diseases / Q000150:complications
D009439:Neuraminidase
Manifestations oculaires d'une forme particulière de mucolipidose: la néphrosialidose.