Diagnosis and management of ophthalmologic features in patients with mucopolysaccharidosis

Stefano Ferrari (1) , Diego Ponzin (1) , Jane L Ashworth (2) , Kristina Teär Fahnehjelm (3) , C Gail Summers (4) , Paul R Harmatz (5) , Maurizio Scarpa (6)

1 The Veneto Eye Bank Foundation, Venice
2 Manchester Royal Eye Hospital, Manchester
3 St. Erik Eye Hospital, Karolinska University Hospital, Huddinge
4 Departments of Ophthalmology and Pediatrics, University of Minnesota, Minneapolis, MN
5 Children's Hospital & Research Center Oakland, Oakland, CA
6 Unipd - Università degli Studi di Padova = University of Padua

Ocular pathology is common in patients with mucopolysaccharidosis (MPS), an hereditary lysosomal storage disorder, where the eye as well as other tissues accumulate excessive amounts of glycosaminoglycans. Despite genetic and phenotypic heterogeneity within and between different types of MPS, the disease symptoms and clinical signs often manifest during the first six months of life with increasing head size, recurrent infections, umbilical hernia, growth retardation and skeletal problems. Typical ocular features include corneal clouding, ocular hypertension/glaucoma, retinal degeneration and optic nerve atrophy. Visual deterioration and sensitivity to light may substantially reduce the quality of life in MPS patients, particularly when left untreated. As an early intervention, haematopoietic stem cell transplantation and/or enzyme replacement therapy are likely to improve patients' symptoms and survival, as well as visual outcome. Thus, it is of utmost importance to ensure proper detection and accurate diagnosis of MPS at an early age. Fundamental herein is to increase awareness and knowledge among ophthalmologists of the ocular problems affecting MPS patients and to highlight potential diagnostic pitfalls and difficulties in patient care. This review provides insight into the prevalence and severity of ocular features in patients with MPS and gives guidance for early diagnosis and follow-up of MPS patients. MPS poses therapeutic challenges in ocular management, which places ophthalmologists next to paediatricians at the forefront of interventions to prevent long-term sequelae of this rare but serious disease.

Mots clés: Pathology; Imaging; Diagnostic tests/Investigation; Treatment Medical; Child health (paediatrics)

Stefano Ferrari, Diego Ponzin, Jane L Ashworth, Kristina Teär Fahnehjelm, C Gail Summers, et al.. Diagnosis and management of ophthalmologic features in patients with mucopolysaccharidosis. British Journal of Ophthalmology, 2010, 95 (5), pp.613. ⟨10.1136/bjo.2010.179937⟩. ⟨hal-00588352⟩