Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy.

ABSTRACT:

Purpose

To investigate the clinical and genetic characteristics of occult macular dystrophy (OMD) based on a Chinese patient cohort.

Methods

Fifteen Chinese OMD patients from nine unrelated families underwent genetic testing, and all of them harbored a pathogenic RP1L1 variant. Comprehensive ophthalmic examinations were performed in nine probands, including spectral-domain optical coherence tomography (SD-OCT), near-infrared reflectance (NIR), fundus autofluorescence (AF), and multifocal electroretinography.

Results

The RP1L1 variants p.R45W and p.S1199C were identified in 13 patients and two patients, respectively, and one was a de novo mutation. Among the nine probands, the median ages at onset and examination were 25.0 years (range, 6-51 years) and 27.0 years (rang

SUBMITTER: Wang DD 

PROVIDER: S-EPMC7401461 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature