ArticleEye and vision (London, England)2026
Longitudinal and cross-sectional study of retinal phenotypes and visual function in choroideremia carriers: a new grading system.
Article in Eye and vision (London, England), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Independent Degeneration of Photoreceptors and Retinal Pigment Epithelium: Multimodal Imaging Evidence From Choroideremia Carriers.Investigative ophthalmology & visual science · 2026Article
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Authors and funding
7 authors.
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Abstract
backgroundChoroideremia is an X-linked chorioretinal dystrophy with well-characterized progression in affected males but variable phenotypes in female carriers. Understanding the phenotypic spectrum in female carriers is important for prognosis, monitoring, and trial design. This study aims to delineate the natural history of retinal phenotypes and visual function loss in female choroideremia carriers and establish an improved fundus grading system for disease stratification and prognostic prediction.
methodsThis single-center, longitudinal and cross-sectional, retrospective study included 64 genetically confirmed female choroideremia carriers. Clinical data included genotype, age, best-corrected visual acuity, color fundus photography, fundus autofluorescence, visual field testing, and full-field electroretinography. A novel fundus phenotypic grading system was proposed based on fundus autofluorescence and fundus color photographs, which included four types: granular (merged fine/coarse patterns), severe peripapillary atrophy (highlighting severe peripapillary atrophy as a crucial feature), localized atrophy, and widespread atrophy. The agreement between measurement-based grading and visual grading was assessed.
resultsVisual acuity and fundus phenotypes showed moderate interocular symmetry, while visual field and electroretinography metrics showed high interocular symmetry. At baseline, phenotypes included granular (76.3%), severe peripapillary atrophy (7.5%), localized atrophy (10.8%), and widespread atrophy (5.4%). Longitudinally, the granular type remained stable, while other types progressed, with a mean atrophy expansion rate of 3.1 mm
conclusionsWe proposed a novel fundus grading system for choroideremia carriers and demonstrated its strong clinical utility and prognostic value. The granular type confers a favorable prognosis, whereas the other three types exhibit progressive deterioration. Baseline phenotypic grading is the best indicator of long-term outcomes, underscoring its value in clinical monitoring and therapeutic trial design.
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