Clinical Characteristics and Genetic Variants in Taiwanese Patients With PROM1-Related Inherited Retinal Disorders.

ABSTRACT:

Purpose

This study investigated the clinical characteristics of patients with PROM1-related inherited retinal diseases (IRDs).

Methods

Patients diagnosed with IRDs who had mutations in PROM1 were identified at Linkou Chang Gung Memorial Hospital and Kaohsiung Medical University Hospital in Taiwan. Information on clinical characteristics and best-corrected visual acuity was recorded. Color fundus (CF) images, fundus autofluorescence photography (FAF), spectral-domain optical coherence tomography (SD-OCT), and electroretinograms (ERGs) were analyzed to examine patient phenotypes. PROM1 variants were detected using whole exome sequencing and verified by Sanger sequencing.

Results

Fourteen patients from nine families with PROM1-related IRDs were analyzed. Most patients ex

SUBMITTER: Lin TY 

PROVIDER: S-EPMC10664721 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature