Longitudinal assessment of female carriers of choroideremia using multimodal retinal imaging.
Sena A GocukLauren N AytonThomas L EdwardsMyra B McGuinessRobert E MaclarenLaura J TaylorJasleen K JollyPublished in: The British journal of ophthalmology (2024)
Choroideremia carriers, particularly those with severe retinal phenotypes, exhibit progressive retinal degeneration, as evident by multimodal imaging biomarkers and functional testing. Clinicians should not rely on retinal severity classification alone to assess disease progression.