Longitudinal assessment of female carriers of choroideremia using multimodal retinal imaging.

ABSTRACT:

Background/aims

Female choroideremia carriers present with a spectrum of disease severity. Unlike in men, the rate of disease progression has not been well characterised in carriers. This longitudinal study aimed to determine the rate of retinal degeneration in choroideremia carriers, using multimodal imaging and microperimetry.

Methods

Choroideremia carriers previously seen at Oxford Eye Hospital (United Kingdom) between 2012 and 2017 returned for testing between 2015 and 2023, providing up to 11 years' follow-up data. Participants had optical coherence tomography, fundus-tracked microperimetry and fundus autofluorescence (FAF) imaging performed.

Results

Thirty-four eyes of 17 choroideremia carriers were examined using multimodal imaging. Median age was 44 (range: 15

SUBMITTER: Gocuk SA 

PROVIDER: S-EPMC11866302 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature