Family cohort with central areolar choroidal dystrophy
Central areolar choroidal dystrophy (CACD) is a rare monogenic hereditary retinal dystrophy characterised by progressive retinal pigment epithelium and choriocapillaris atrophy, photoreceptor loss, oxidative stress, and chronic inflammation. Emerging evidence suggests that the gut microbiota can modulate systemic inflammatory responses and may influence ocular health through the gut-eye axis. However, the contribution of the gut microbiome to CACD remains unexplored. In this pilot study, we investigated the gut microbiome composition and functional potential of members of a large Spanish family carrying the PRPH2 Arg195Leu mutation associated with CACD. Faecal samples from 33 mutation carriers and 24 non-carrier household members were analysed using whole-metagenome shotgun sequencing.
Central areolar choroidal dystrophy (CACD) is a rare monogenic hereditary retinal dystrophy characterised by progressive retinal pigment epithelium and choriocapillaris atrophy, photoreceptor loss, oxidative stress, and chronic inflammation. Emerging evidence suggests that the gut microbiota can modulate systemic inflammatory responses and may influence ocular health through the gut-eye axis. However, the contribution of the gut microbiome to CACD remains unexplored. In this pilot study, we investigated the gut microbiome composition and functional potential of members of a large Spanish family carrying the PRPH2 Arg195Leu mutation associated with CACD. Faecal samples from 33 mutation carriers and 24 non-carrier household members were analysed using whole-metagenome shotgun sequencing.
Technical University of Cartagena