Ocular manifestations in patients with mucopolysaccharidosis: what do we know and how can we treat?

Abstract

The mucopolysaccharidoses (MPS) represent a group of inheritable lysosomal storage disorders characterized by a deficiency in enzymes involved in the degradation of glycosaminoglycans (GAGs). The accumulation of GAG deposits in organs and tissues in patients with MPS can lead to clinical manifestations such as coarse facial features, reduced growth, skeletal deformities, spinal cord compression and respiratory and cardiac problems. In many patients, GAG accumulation in ocular tissues leads to ocular manifestations, including corneal clouding, glaucoma, retinopathy and optic nerve swelling/atrophy, often resulting in significant visual impairment. The proceedings in this supplement of Clinical Experimental Ophthalmology provide the outcome of a meeting entitled ‘Mucopolysaccharidosis (MPS) and the eye: What do we know and how can we treat’, that was held on 7–9 October 2009 in Venice, Italy. This meeting was the very first opportunity for paediatricians specialized in MPS and ophthalmologists to present and discuss different aspects of ocular manifestations in patients with MPS. The first presentations provided an overview of the current knowledge on the anatomy and physiology of the eye, with focus on the different parts of the eye that are involved in the ocular manifestations seen in MPS, and discussed the genetic background of corneal diseases and the mechanisms of corneal transparency. These presentations served as a background for further talks focusing on ocular features in patients with MPS, their underlying pathology and the diagnosis and treatment of ocular features in these patients. The goals of this meeting were to understand better the pathology underlying ocular manifestations in patients with MPS, to formulate ideas for improving their condition and to discuss the potential benefit of current ocular therapies for MPS patients. The proceedings of this meeting intend to make ophthalmologists aware of the central role they may play in the early diagnosis and follow up of patients with MPS, and to provide state-of-the art information on ocular problems in patients with MPS for paediatricians managing these patients. The authors are grateful to Ismar Healthcare NV for their support with the organization of the meeting and their writing assistance for the supplement. This was funded by BioMarin Europe Ltd. BioMarin had no role in the content presented and discussed at the meeting and in the content of this supplement.