Retinitis pigmentosa and mucopolysaccharidosis type II: an extremely attenuated phenotype

Abstract

A 29-year-old Japanese man had had decreased visual acuity (6/15) and visual field in the dark for 10 years. He had been healthy and intelligent. His height (168 cm), head circumference (57 cm), and general appearance of the face and posture were normal (Fig. 1a). Very mild contracture of the fingers and elbows was noted (Fig. 1b), which suggested the… (More)
DOI: 10.1007/s10545-009-1204-y

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Cite this paper

@article{Suzuki2009RetinitisPA, title={Retinitis pigmentosa and mucopolysaccharidosis type II: an extremely attenuated phenotype}, author={Yuji Suzuki and Akihiro Aoyama and T. Kato and Nobuyuki Shimozawa and Tadao Orii}, journal={Journal of Inherited Metabolic Disease}, year={2009}, volume={32}, pages={582-583} }