Ocular manifestations of group A Niemann-Pick disease.
Four infants with Group A Niemann-Pick disease had similar ocular abnormalities secondary to this systemic disease. Each child demonstrated corneal opacification, brown discoloration of the anterior lens capsule, and retinal opacification with a macular cherry-red spot. These abnormalities were seen in each child during the first year of life and appeared stable. Recognition of this combination of ocular defects facilitates early identification of patients with Group A infantile Niemann-Pick disease.
D003315:Cornea / Q000473:pathology; D005132:Eye Manifestations; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007223:Infant; D007908:Lens, Crystalline / Q000473:pathology; D008297:Male; D009542:Niemann-Pick Diseases / Q000150:complications* / Q000473:pathology; D012160:Retina / Q000473:pathology