Mucolipidosis I: ocular signs in three sisters.
In inborn errors of metabolism ocular signs can often represent an early symptom and permit a presumed diagnosis which must be confirmed by biochemical studies. Moreover the ocular signs indicate the evolution of the illness together with other general symptoms.
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005123:Eye / Q000473:pathology* / Q000503:physiopathology; D005260:Female; D006801:Humans; D009081:Mucolipidoses / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009461:Neurologic Manifestations; D010375:Pedigree