Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report.

ABSTRACT:

Background

Mucopolysaccharidosis type VI (MPS VI) is a rare autosomal recessive inherited disease caused by mutations in the arylsulfatase B (ARSB) gene. MPS VI is a multisystemic disease resulting from a deficiency in arylsulfatase B causing an accumulation of glycosaminoglycans in the tissues and organs of the body. In this report, we present the case of a 16-year-old Chinese male who presented with vision loss caused by corneal opacity. MPS VI was confirmed by genetic diagnosis.

Case presentation

A 16-year-old Chinese male presented with a one-year history of binocular vision loss. The best-corrected visual acuity was 0.25 in the right eye and 0.5 in the left eye. Although slit-lamp examination revealed corneal opacification in both eyes, the ocular examinations of his pa

SUBMITTER: He MF 

PROVIDER: S-EPMC8120710 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature