{Reference Type}: Journal Article
{Title}: Retinal characteristics of female choroideremia carriers: Multimodal imaging, microperimetry and genetics.
{Author}: Gocuk SA;Edwards TL;Jolly JK;McGuinness MB;MacLaren RE;Chen FK;Taylor LJ;McLaren TL;Lamey TM;Thompson JA;Ayton LN;
{Journal}: Ophthalmol Retina
{Volume}: 0
{Issue}: 0
{Year}: 2024 Jun 25
暂无{DOI}: 10.1016/j.oret.2024.06.011
{Abstract}: <B>OBJECTIVE: </B>Describe visual function and retinal features of female carriers of choroideremia (CHM), using multimodal imaging and microperimetry.<BR><B>METHODS: </B>Cross-sectional cohort study PARTICIPANTS AND CONTROLS: CHM carriers seen in Australia (Melbourne or Perth) or United Kingdom (Oxford or Cambridge) between 2012 and 2023. Healthy age-matched controls seen in Melbourne, Australia, between 2022 and 2023.<BR><B>METHODS: </B>Participants had visual acuity, fundus-tracked microperimetry, optical coherence tomography (OCT), and fundus autofluorescence (FAF) imaging performed. CHM carriers were either genetically and/or clinically confirmed (i.e., obligate carriers). CHM carriers were grouped according to their retinal phenotype and compared to healthy controls. Statistical analyses were performed on StataBE (v18.0).<BR><B>METHODS: </B>Best-corrected visual acuity (BCVA), low-luminance visual acuity (LLVA), average retinal sensitivity, volume of macular hill of vision (HoV), inner retinal thickness (IRT), and photoreceptor complex (PRC) thickness.<BR><B>RESULTS: </B>Eighty-six eyes of 43 CHM carriers and 60 eyes of 30 healthy controls were examined using multimodal imaging and microperimetry. Median age was 54 and 48.5 years for CHM carriers and controls, respectively (p=0.18). Most CHM carriers (86%) were genetically confirmed. CHM carriers and controls had strong inter-eye correlation between eyes for BCVA and average retinal sensitivity (p<0.001). LLVA and macular HoV tests were sensitive tests to detect changes in CHM carriers with mild phenotypes (i.e., fine and coarse). CHM carriers with geographic and/or male pattern phenotypes had reduced BCVA, LLVA, retinal sensitivity, and retinal thinning, compared to healthy controls. Retinal thickening of the inner retina was observed in the central 1 degree, despite generalised thinning of the PRC in the central 7 degrees, indicating retinal remodelling in CHM carriers, compared to controls. There were no genotype-phenotype correlations observed.<BR><B>CONCLUSIONS: </B>Female carriers of CHM with severe retinal phenotypes (i.e., geographic or male pattern) have significantly decreased visual function and retinal structural changes, when compared to age-matched controls and those carriers with milder phenotypes. LLVA and volumetric measures of the macular HoV were found to be the most sensitive functional tests to detect milder retinal disease (fine and coarse phenotypes) in CHM carriers.