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- W4382933507 endingPage "101190" @default.
- W4382933507 startingPage "101190" @default.
- W4382933507 abstract "Inherited retinal diseases (IRDs) are a group of heterogeneous conditions that cause progressive vision loss, typically due to monogenic mutations. Female carriers of X-linked IRDs have a single copy of the disease-causing gene, and therefore, may exhibit variable clinical signs that vary from near normal retina to severe disease and vision loss. The relationships between individual genetic mutations and disease severity in X-linked carriers requires further study. This review summarises the current literature surrounding the spectrum of disease seen in female carriers of choroideremia and X-linked retinitis pigmentosa. Various classification systems are contrasted to accurately grade retinal disease. Furthermore, genetic mechanisms at the early embryonic stage are explored to potentially explain the variability of disease seen in female carriers. Future research in this area will provide insight into the association between genotype and retinal phenotypes of female carriers, which will guide in the management of these patients. This review acknowledges the importance of identifying which patients may be at high risk of developing severe symptoms, and therefore should be considered for emerging treatments, such as retinal gene therapy." @default.
- W4382933507 created "2023-07-04" @default.
- W4382933507 creator A5006474632 @default.
- W4382933507 creator A5009267002 @default.
- W4382933507 creator A5027846790 @default.
- W4382933507 creator A5050206850 @default.
- W4382933507 date "2023-09-01" @default.
- W4382933507 modified "2023-10-18" @default.
- W4382933507 title "Female carriers of X-linked inherited retinal diseases – Genetics, diagnosis, and potential therapies" @default.
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