Homozygous R383H variant in IDUA gene causing pericentric retinitis pigmentosa in attenuated mucopolysaccharidosis type I.

Abstract excerpt

INTRODUCTION: Biallelic variants in the IDUA gene are linked to Mucopolysaccharidosis type I (MPS I), a rare type I lysosomal storage disorder characterized by systemic manifestations of coarse facies, macrocephaly, hepatosplenomegaly, dysostosis multiplex, hearing loss, cardiac issues, airway involvement, hydrocephalus, and intellectual disability. Based on the age at which symptoms appear and the degree of...

Topics

• Humans
• Homozygote
• Iduronidase
• Mucopolysaccharidosis I
• Mutation
• Pedigree
• Retinitis Pigmentosa