ArticleCase reports in ophthalmology
Female Simplex Carriers of X-Linked Retinal Dystrophies: A Case Series.
Article in Case reports in ophthalmology. 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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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Comparative Analysis of Retinal Structure and Function in Female Carriers of Choroideremia and X-Linked Retinitis Pigmentosa.Translational vision science & technology · 2026Article
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: X-linked inherited retinal dystrophies (IRDs) lead to progressive vision loss in affected males and include choroideremia (CHM), X-linked retinitis pigmentosa (XLRP), and X-linked cone-rod dystrophy (XLCORD). Female carriers may be asymptomatic or manifest disease ranging from mild to severe. Due to the variable manifestation of disease in females, some pedigrees can appear autosomal dominant. However, female carriers presenting as simplex probands are rare and X-linked disease may not be suspected in these cases without genetic testing. Case Presentations: Three affected simplex CHM carriers and six affected simplex XLRP or XLCORD carriers due to variants in Conclusion: The absence of family history does not preclude X-linked inheritance in females with retinal dystrophies. Multimodal imaging such as FAF and red-free photos should be included in the workup. As new therapeutic strategies are developed for CHM and
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