IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History.

ABSTRACT:

Purpose

To describe the clinical and genetic features, and explore the natural history of retinopathy associated with IQCB1 variants in children and adults with retinopathy.

Design

Retrospective cohort study at a single tertiary care referral center.

Methods

The study recruited 19 patients with retinopathy, harboring likely disease-causing variants in IQCB1. Demographic data and clinical presentation, best corrected visual acuity (BCVA), fundus appearance, optical coherence tomography (OCT) and autofluorescence features, electroretinography (ERG) and molecular genetics are reported.

Results

Ten patients had best corrected visual acuity better than 1.0 LogMAR, and BCVA remained stable till the last review. Seven patients had a vision of hand movements or worse i

SUBMITTER: Sen S 

PROVIDER: S-EPMC11752837 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature