title: Optic nerve head swelling and optic atrophy in the systemic mucopolysaccharidoses.
abstract: The ocular findings in 108 patients representative of all types of mucopolysaccharidoses (MPS) were reviewed. Attention was focused on optic nerve head appearance. Optic nerve head swelling was observed in 8/14 eyes of MPS 1-Hurler (MPS 1-H); 9/21 MPS 1-Hurler-Scheie (MPS 1-H-S); 0/4 MPS I-S; 13/66 MPS II; 1/22 MPS III; 0/58 MPS IV; 5/12 MPS VI; and 2/2 MPS VII eyes. In three patients, optic nerve head swelling was present in one eye and optic atrophy in the fellow eye; in four patients, optic atrophy followed disc elevation; three patients presented with bilateral optic atrophy. It was concluded that optic nerve head swelling precedes the development of optic atrophy in the systemic MPS.
authors: Johns Hopkins Center for Hereditary Eye Diseases, Johns Hopkins Hospital, Baltimore, MD.
authors: M L
authors: ML
authors: Collins
authors: E I
authors: EI
authors: Traboulsi
authors: I H
authors: IH
authors: Maumenee
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007223:Infant; D008297:Male; D009083:Mucopolysaccharidoses / Q000150:complications* / Q000473:pathology; D009896:Optic Atrophy / Q000209:etiology* / Q000473:pathology; D009898:Optic Disk / Q000473:pathology; D010211:Papilledema / Q000209:etiology* / Q000473:pathology; D014792:Visual Acuity