Objective: The purpose of the study was to provide longer follow-up of ocular findings in patients with mucopolysaccharidoses (MPS) after bone marrow transplantation (BMT).
Design: The study design was a retrospective 6-year cohort evaluation.
Participants: Twenty-three patients with MPS (19 with MPS type I-H, 3 with MPS type III, 1 with MPS type VI) were studied.
Intervention: Bone marrow transplantation was performed.
Main outcome measures: The following outcome measures were considered: vision, slit-lamp biomicroscopic and funduscopic examinations, intraocular pressure, electroretinography (ERG), and retinoscopy.
Results: Thirteen (81%) of 16 patients showed ERG improvement in the first year. However, all patients showed slowly progressive decline of the ERG over longer follow-up. Other ocular findings included optic atrophy (n = 7 patients), disc edema (n = 6 patients), strabismus (n = 6 patients), nystagmus (n = 6 patients), cataract (n = 3 eyes), keratoconjunctivitis sicca (n = 4 eyes), ocular hypertension (n = 2 eyes), and glaucoma (n = 2 eyes).
Conclusions: The MPS are rare and heterogeneous disorders characterized by progressive retinal degeneration and blindness. Ocular abnormalities can occur as a result of the disease or as a consequence of BMT. Successful BMT has been shown to improve systemic health, but this may not reflect continuing ocular status and retinal function. Despite early improvement in ERG function, longer follow-up suggests progressive retinal decline.