Optic nerve head swelling and optic atrophy in the systemic mucopolysaccharidoses

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.