Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease.

ABSTRACT:

Background

Adult polyglucosan body disease (APBD) is caused by a deficiency in glycogen branching enzyme that leads to polyglucosan accumulation in multiple organs. It has a progressive clinical course with prominent neurologic manifestations. We aim to describe the neuro-ophthalmic manifestations of APBD.

Methods

This is a case series of 3 individuals with genetically proven APBD. Written informed consent was provided by the brothers. We also performed a literature review on the current state of knowledge on APBD through PubMed.

Results

Brother 1 developed gait imbalance and length-dependent polyneuropathy in his 40s followed by progressive urinary symptoms in his 50s. He reported diplopia and blurry vision in his 60s. Neuro-ophthalmic assessment revealed bilateral o

SUBMITTER: Dugue AG 

PROVIDER: S-EPMC11822221 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature