ReportCorrelation of Retinal Structure and Function in Choroideremia Carriers
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Cited by (45)
Female carriers of X-linked inherited retinal diseases – Genetics, diagnosis, and potential therapies
2023, Progress in Retinal and Eye ResearchThe safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review
2022, Genetics in MedicineCitation Excerpt :For the primary outcome, the estimated mean change from baseline in LogMAR visual acuity (VA) was −0.012 (95% CI: −0.182 to 0.158) in the GS010-treated eyes compared with sham-treated eyes at 48 weeks (n = 39). Choroideremia is an X-linked IRD that primarily affects the RPE, with secondary degeneration of the outer retina and choroid.61 Choroideremia is caused by variants in the CHM gene that encodes REP1, leading to progressive chorioretinal degeneration.38
Intereye Symmetry in Bietti Crystalline Dystrophy
2022, American Journal of OphthalmologyCitation Excerpt :Retinal crystal count and area quantification could serve as a cost-effective, versatile addition to the clinical assessment of patients with BCD. In addition, our findings support an association between the degree of crystal disappearance and RPE atrophy,10,20 reflecting other IRDs such as choroideremia where the primary pathology is thought to occur in the RPE.42,43 Further exploration with longer-term follow-up to determine whether local changes in crystal count, size, or density might be predictive of impending areas of RPE and retinal atrophy would be of value, for example, in identifying regions to target with therapeutic interventions.
Genetic disorders causing non-syndromic retinopathy
2022, Clinical Ophthalmic Genetics and GenomicsLong-read technologies identify a hidden inverted duplication in a family with choroideremia
2021, Human Genetics and Genomics AdvancesCitation Excerpt :Female carriers generally do not manifest significant visual impairment. Several cases are reported to develop severe visual impairment during adolescence due to skewed X-inactivation,4,6–8 while the correlation between skewed X-inactivation and the clinical outcome is also debated.7,9 CHM is almost exclusively caused by nonsense variants, splice site variants, and pathogenic deletions and insertions in the CHM gene (NM_00390.3; OMIM: 300390), which spans 186 kb on chromosome Xq21.2 and encompasses 15 coding exons.10,11
Fundus-controlled perimetry (microperimetry): Application as outcome measure in clinical trials
2021, Progress in Retinal and Eye ResearchCitation Excerpt :FCP has also been applied to quantify retinal dysfunction in choroideremia carriers (Edwards et al., 2015). In this cohort, mesopic sensitivity was shown to correlate with the degree of loss of RPE autofluorescence (Edwards et al., 2015). Mesopic FCP served as secondary outcome in multiple gene augmentation therapy trials for CHM (Dimopoulos et al., 2018b; Fischer et al., 2020; MacLaren et al., 2014; Simunovic et al., 2017).
Financial Disclosure(s): Supported by Health Innovation Challenge Fund, Royal College of Surgeons of Edinburgh, The Wellcome Trust, UK Department of Health (jointly funded by the Wellcome Trust and the Department of Health) grant no. HICF-091984, NIHR Oxford Biomedical Research Centre, Oxford Nuffield Medical Fellowship.