CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.

ABSTRACT:

Purpose

To analyze the clinical characteristics, natural history, and genetics of CRB1-associated retinal dystrophies.

Design

Multicenter international retrospective cohort study.

Methods

Review of clinical notes, ophthalmic images, and genetic testing results of 104 patients (91 probands) with disease-causing CRB1 variants. Macular optical coherence tomography (OCT) parameters, visual function, fundus characteristics, and associations between variables were the main outcome measures.

Results

The mean age of the cohort at the first visit was 19.8 ± 16.1 (median 15) years, with a mean follow-up of 9.6 ± 10 years. Based on history, imaging, and clinical examination, 26 individuals were diagnosed with retinitis pigmentosa (RP; 25%), 54 with early-onset severe reti

SUBMITTER: Daich Varela M 

PROVIDER: S-EPMC10555856 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature