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Ranked Importance of Visual Function Outcome Measures in Choroideremia Clinical Trials.
Invest Ophthalmol Vis Sci
November 2024
Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford & NIHR Oxford Biomedical Research Centre, Oxford, United Kingdom.
Purpose: Clinical trials of novel therapies for choroideremia require robust and clinically meaningful visual function outcome measures. Best-corrected visual acuity (BCVA) is mostly insensitive to changes in disease state, until late stages, and hence also to potential therapeutic gains after gene therapies. While the insensitivity of BCVA as an effective outcome measure is common wisdom, its low importance has not been rigorously demonstrated in the literature.
View Article and Find Full Text PDFRetinal Patterns and the Role of Autofluorescence in Choroideremia.
Genes (Basel)
November 2024
Nuffield Laboratory of Ophthalmology, University of Oxford, Oxford OX3 9DU, UK.
Background: Choroideremia is a monogenic inherited retinal dystrophy that manifests in males with night blindness, progressive loss of peripheral vision, and ultimately profound sight loss, commonly by middle age. It is caused by genetic defects of the gene, which result in a deficiency in Rab-escort protein-1, a key element for intracellular trafficking of vesicles, including those carrying melanin. As choroideremia primarily affects the retinal pigment epithelium, fundus autofluorescence, which focuses on the fluorescent properties of pigments within the retina, is an established imaging modality used for the assessment and monitoring of affected patients.
View Article and Find Full Text PDFA novel frameshift variant in gene mimicking choroideremia carrier retinopathy.
Ophthalmic Genet
December 2024
Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Background: Danon disease is a rare, multisystemic X-linked dominant disorder caused by variants in the gene. It can be associated with retinal degeneration, but this is not well characterized. Here we describe a late presentation of a mild retinal phenotype, initially diagnosed as choroideremia carrier, associated with a novel variant in the gene.
View Article and Find Full Text PDFMeasuring X-Chromosome inactivation skew for X-linked diseases with adaptive nanopore sequencing.
Genome Res
November 2024
Epigenetics and Development Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia;
X-linked genetic disorders typically affect females less severely than males owing to the presence of a second X Chromosome not carrying the deleterious variant. However, the phenotypic expression in females is highly variable, which may be explained by an allelic skew in X-Chromosome inactivation. Accurate measurement of X inactivation skew is crucial to understand and predict disease phenotype in carrier females, with prediction especially relevant for degenerative conditions.
View Article and Find Full Text PDFA novel large multi-gene deletion in syndromic choroideremia.
Ophthalmic Genet
October 2024
Department of Ophthalmology, Duke University School of Medicine, Durham, North Carolina USA.
Introduction: Caused by mutation or deletion of the gene, choroideremia is a rare X-linked recessive chorioretinal dystrophy characterized by progressive degeneration of the retinal pigment epithelium, photoreceptors, and the choriocapillaris. There are few published reports of choroideremia associated with complex syndromic phenotypes due to large or contiguous gene deletions.
Methods: Case report and review of literature.
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