Ocular features and management in the mucopolysaccaridosis

Purpose To evaluate the ocular findings and the visual outcome in a group of patients with mucopolysaccaridoses(MPS) followed and treated with new therapeutic options. Methods 18 pazients with MPS (9 males and 9 females) were examinated: 3 cases with MPS type I, 4 with MPS type II,7 with MPS type III, 1 with MPS type IV and 3 with MPS type VI. The patients underwent an ophthalmological assessment with : visual acuity (with Teller Acuity Cards, Lea Symbols o letter chart, depending on patient age or degree of cohoperation), slit-lamp examination, fundus ophthalmoscopy, intraocular pressure, refractometry, electroretinography and eye echography. Results The mean follow-up was 48 months (ranged from 3 to 190 months).The mean age at first ophtalmologic evaluation was 6,9 years ( ranged from 1 to 20 years). 8 case presented progressive corneal clouding, 5 case retinal pigmentary degeneration, and 1 papilledema. Visual acuity worsened severely in 3 cases with MPS type I: 1 case from 10/10 to 5/10, 1 case from 5/10 to 1/10; in another case visual acuity decreased to 1/20 and underwent to corneal transplantation with good visual outcome (RE 5/10 and LE 7/10). The other cases showed slightly reduction of visual function. 3 patients had ocular hypertension and were treated with hypotensive eye drops. 8 patients underwent enzyme replacement therapy. Conclusions The mucopolysaccaridoses(MPS) are rare systemic disorders caused by accumulation of glycosaminoglycans. Ophthalmological manifestations are frequent in MPS, particularly in MPS I, II and VI, characterized by corneal clouding, retinal distrophy and blindness.Regular ophthalmic monitoring to determine disease progression and management of complications are necessary as a part of multidisciplinary approach