Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.

ABSTRACT:

Background

Sialidosis type 1 is a rare inherited disorder with a high disability. No genetically confirmed mainland Chinese patient with sialidosis type 1 has been reported. This study evaluated the phenotypes and genotypes of mainland Chinese patients with sialidosis type 1.

Methods

It was a retrospective case series study. Four unrelated patients were enrolled. Comprehensive clinical evaluations and molecular genetic analysis of the NEU1 gene were performed.

Results

Three out of four patients presented progressive myoclonus epilepsy. The best-corrected visual acuity ranged from 20/2000 to 20/25. Punctate cataracts were found in all of the patients. Distinct macular cherry red spots were observed in three patients by fundoscopy, and a relatively normal fundus was rev

SUBMITTER: Han X 

PROVIDER: S-EPMC7434748 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature