CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.

ABSTRACT:

Purpose

To analyze the clinical characteristics, natural history, and genetics of CERKL-associated retinal dystrophy in the largest series to date.

Design

Multicenter retrospective cohort study.

Subjects

Forty-seven patients (37 families) with likely disease-causing CERKL variants.

Methods

Review of clinical notes, ophthalmic images, and molecular diagnosis from 2 international centers.

Main outcome measures

Visual function, retinal imaging, and characteristics were evaluated and correlated.

Results

The mean age at the first visit was 29.6 ± 13.9 years, and the mean follow-up time was 9.1 ± 7.4 years. The most frequent initial symptom was central vision loss (40%), and the most common retinal feature was well-demarcated areas of macular atrophy (5

SUBMITTER: Daich Varela M 

PROVIDER: S-EPMC11108804 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature