title: [Clinical findings and trace metals (zinc & copper) in Leber's congenital amaurosis].
abstract: Sixteen (16) patients of Leber's congenital amaurosis diagnosed with ERG all had nystagmus since infancy; 9 cases showed the digito-ocular sign and 15 had axial hyperopia on cycloplegic refraction and/or A-scan ultrasonography. The common ophthalmoscopic findings were narrow vessels, grayish coloration and pigmentation in the retina. The average serum zinc level of 12 cases was significantly lower than that of the controls, while the copper level differed not much. The results suggest that it is advisable for the child patients to receive cycloplegic refraction and proper spectacle correction as early as possible, and zinc therapy.
authors.affiliation: Zhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences, Guangzhou, Guangdong Province.
authors.forename: L H
authors.initials: LH
authors.lastname: Zeng
mesh_terms: D000293:Adolescent; D001766:Blindness / Q000097:blood / Q000151:congenital*; D002648:Child; D002675:Child, Preschool; D003300:Copper / Q000097:blood*; D004596:Electroretinography; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D015032:Zinc / Q000097:blood*
chemical_list: D003300:Copper; D015032:Zinc