Alpha-mannosidosis due to a novel MAN2B1 truncating mutation in a Chinese patient: a new report and long-term follow-up.

doi:10.1007/s10633-025-10072-9

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Article

Alpha-mannosidosis due to a novel MAN2B1 truncating mutation in a Chinese patient: a new report and long-term follow-up.

Documenta ophthalmologica. Advances in ophthalmology - 1 Aug 2026

Yao Fengxia, Li Yamei, Wei Xing, Zhang Weimin, Zhou Yunyu, Liu Yue, Zou Xuan, Sui Ruifang

Abstract excerpt

PURPOSE: To report a case of α-mannosidosis with intellectual, hearing impairment and progressive retinal degeneration, supported by ten years of ophthalmic follow-up, genetic testing, and leukocyte α-mannosidase enzymatic analysis. METHODS: The patient underwent serial ophthalmic examinations over a ten-year period, including best-corrected visual acuity (BCVA) testing, fundus photography, optical coherence...

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Identifiers

PMID: 41530594
DOI: 10.1007/s10633-025-10072-9

Genes

MAN2B1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.