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Cross-Sectional and Longitudinal Assessment of Retinal Sensitivity in Patients With Childhood-Onset Stargardt Disease
摘要： Purpose: We assess cross-sectional and longitudinal microperimetry and full-field static perimetry-derived retinal sensitivity with conventional and volumetric indices of retinal function in childhood-onset Stargardt disease (STGD1). Methods: Subjects with molecularly confirmed childhood-onset STGD1 underwent full-field static perimetry and/or microperimetry using custom designed grids. Mean sensitivity (MS) and total volume (VTOT) were computed for each microperimetry test. MS, VTOT, and central field volume (V30) were computed for each full-field static perimetry test. Subjects under 18 years old at baseline were classified as children and subjects 18 years or older as adults. Results: A total of 43 children (mean age at baseline, 13.0 years; range, 8–17) and 13 adults (mean age at baseline, 23.1 years; range, 18–32) were included in the analysis. For full-field static perimetry and microperimetry for both subgroups, intraclass correlation coefficient results for MS and volumetric indices were good to excellent, indicating strong test–retest reliability. Interocular symmetry in terms of baseline measurements and the annual rate of progression was observed. A greater rate of progression was observed in childhood. Conclusions: To our knowledge, this is the first prospective study of retinal sensitivity in a large cohort of molecularly confirmed subjects with childhood-onset STGD1 demonstrating that children with STGD1 can reliably undertake detailed functional testing. Moreover, using custom designed grids and subsequent topographic analysis, volumetric indices of retinal function provide a reliable measure of retinal sensitivity.
关键词： endpoints,Stargardt disease,retina,clinical trials,ABCA4,perimetry,visual field,STGD1,Retinal sensitivity
更新于2025-09-23 15:22:29
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Attenuation of Inherited and Acquired Retinal Degeneration Progression with Gene-based Techniques
摘要： Inherited retinal dystrophies cause progressive vision loss and are major contributors to blindness worldwide. Advances in gene therapy have brought molecular approaches into the realm of clinical trials for these incurable illnesses. Select phase I, II and III trials are complete and provide some promise in terms of functional outcomes and safety, although questions do remain over the durability of their effects and the prevalence of inflammatory reactions. This article reviews gene therapy as it can be applied to inherited retinal dystrophies, provides an update of results from recent clinical trials, and discusses the future prospects of gene therapy and genome surgery.
关键词： Clinical trials,Genome surgery,Inherited retinal dystrophies,Gene therapy,CRISPR
更新于2025-09-23 15:19:57