Ocular Characteristics and Genotype-Oriented Disease Spectrum of Alstrom Syndrome in Taiwan.

ABSTRACT:

Purpose

This study aimed to describe the ophthalmological features of Alström syndrome, a rare syndromic ciliopathy, and to delineate the genotype-associated disease spectrum.

Methods

Eight Taiwanese patients were recruited for this study. Pathogenic variants were identified using next-generation sequencing, and medical records were reviewed for systemic involvement. Best-corrected visual acuity, cycloplegic refraction, blue light fundus autofluorescence imaging, International Society for Clinical Electrophysiology of Vision-standard full-field flash electroretinography, optical coherence tomography, and visual field testing were obtained and studied retrospectively.

Results

Common ocular manifestations included hyperopia, nystagmus, photophobia, and visual impairment

SUBMITTER: Cheng CC 

PROVIDER: S-EPMC12166501 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature