Punctate lenticular opacities in type II mannosidosis.
Ocular examination in four siblings with Type II mannosidosis revealed scattered punctate opacities in the entire lens. No such lenticular opacities were described in 28 previously reported patients, 17 presumed Type II and 11 Type I. Complete ocular examination with particular attention to opacities in the lens and cornea may provide additional phenotypic data for identification of genetic variants with amnnosidosis.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007905:Lens Diseases / Q000209:etiology*; D008361:Mannosidases / Q000172:deficiency*; D008661:Metabolism, Inborn Errors / Q000150:complications
D008361:Mannosidases