MPS I – Ocular System

Corneal clouding is a feature of all MPS I patients and can lead to significant visual disability. Open-angle glaucoma is also a common complication.^{[1, 2]} Retinal degeneration associated with loss of peripheral vision and night-blindness may occur and can be assessed by an electroretinogram. Visual disturbances can progress to blindness from a combination of retinal pigmentary degeneration, optic nerve compression and atrophy, and cortical damage.

References

1. Clarke, L.A. (1997) Clinical diagnosis of lysosomal storage diseases. In: Organelle Diseases. Clinical Features, Diagnosis, Pathogenesis and Management. Applegarth, D.A., Dimmick, J.E., and Hall, J.G. (eds.). Chapman and Hall Medical, London, pp. 37.

2. Neufeld, E.F., and Muenzer, J. (2001) The mucopolysaccharidoses. In: The Metabolic and Molecular Bases of Inherited Disease. Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D., Childs, B., Kinzler, K.W., and Vogelstein, B. (eds.). 8th edition, Vol. III. McGraw-Hill, Medical Publishing Division, pp. 3421.