ArticleAmerican journal of ophthalmology2021
Assessing Photoreceptor Status in Retinal Dystrophies: From High-Resolution Imaging to Functional Vision.
Article in American journal of ophthalmology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 40 citations in OpenAlex.
- Voretigene neparvovec in RPE65-related inherited retinal dystrophy: the 1-year real-world study LIGHT.Eye (London, England) · 2025Article
- Functional vision tests as clinical trial outcome measures in ophthalmology: a scoping review.BMJ open · 2025Article
- Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice.Eye (London, England) · 2024Article
- Current Status of Clinical Trials Design and Outcomes in Retinal Gene Therapy.Cold Spring Harbor perspectives in medicine · 2024Review
- Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire.Investigative ophthalmology & visual science · 2024Observational
- Full-field stimulus threshold testing: a scoping review of current practice.Eye (London, England) · 2024Article
- Progression of retinitis pigmentosa on static perimetry, optical coherence tomography, and fundus autofluorescence.Scientific reports · 2023Article
- Adaptive Optics Flood Illumination Ophthalmoscopy in Nonhuman Primates: Findings in Normal and Short-term Induced Detached Retinae.Ophthalmology science · 2023Article
- Progression of Rare Inherited Retinal Dystrophies May Be Monitored by Adaptive Optics Imaging.Life (Basel, Switzerland) · 2023Article
- Characteristics of Rare Inherited Retinal Dystrophies in Adaptive Optics-A Study on 53 Eyes.Diagnostics (Basel, Switzerland) · 2023Article
- Overview of Retinal Gene Therapy: Current Status and Future Challenges.Cold Spring Harbor perspectives in medicine · 2023Review
- Adaptive Optics Imaging of Inherited Retinal Disease.Cold Spring Harbor perspectives in medicine · 2023Review
- Mobility Testing and Other Performance-Based Assessments of Functional Vision in Patients with Inherited Retinal Disease.Cold Spring Harbor perspectives in medicine · 2023Review
- The Importance of Natural History Studies in Inherited Retinal Diseases.Cold Spring Harbor perspectives in medicine · 2023Review
- Comprehensive automatic processing and analysis of adaptive optics flood illumination retinal images on healthy subjects.Biomedical optics express · 2023Article
- Dysfunction of the glutamatergic photoreceptor synapse in the P301S mouse model of tauopathy.Acta neuropathologica communications · 2023Article
- Optimization and Validation of a Virtual Reality Orientation and Mobility Test for Inherited Retinal Degenerations.Translational vision science & technology · 2023Article
Corrections and comments
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Authors and funding
16 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo describe the value of integrating phenotype/genotype data, disease staging, and evaluation of functional vision in patient-centered management of retinal dystrophies.
methods(1) Cross-sectional structure-function and retrospective longitudinal studies to assess the correlations between standard fundus autofluorescence (FAF), optical coherence tomography, visual acuity (VA), and perimetry (visual field [VF]) examinations to evaluate photoreceptor functional loss in a cohort of patients with rod-cone dystrophy (RCD); (2) flood-illumination adaptive optics (FIAO) imaging focusing on photoreceptor misalignment and orientation of outer segments; and (3) evaluation of the impact of visual impairment in daily life activities, based on functional (visual and mobility) vision assessment in a naturalistic environment in visually impaired subjects with RCD and subjects treated with Luxturna
resultsThe results of the cross-sectional transversal study showed that (1) VA and macular sensitivity were weakly correlated with the structural variables; and (2) functional impairment (VF) was correlated with reduction of anatomical markers of photoreceptor structure and increased width of autofluorescent ring. The dimensions of the ring of increased FAF evolved faster. Other criteria that differed among groups were the lengths of the ellipsoid zone, the external limiting membrane, and the foveal thickness. FIAO revealed a variety of phenotypes: paradoxical visibility of foveal cones; heterogeneous brightness of cones; dim, inner segment-like, and RPE-like mosaic. Directional illumination by varying orientation of incident light (Stiles-Crawford effect) and the amount of side illumination (gaze-dependent imaging) affected photoreceptor visibility. Mobility assessment under different lighting conditions showed correlation with VF, VA, contrast sensitivity (CS), and dark adaptation, with different predictive values depending on mobility study paradigms and illumination level. At high illumination level (235 lux), VF was a predictor for all mobility performance models. Under low illumination (1 and 2 lux), VF was the most significant predictor of mobility performance variables, while CS best explained the number of collisions and segments. In subjects treated with Luxturna
conclusionsOur results suggest the benefit of development and implementation of quantitative and reproducible tools to evaluate the status of photoreceptors and the impact of both visual impairment and novel therapies in real-life conditions. NOTE: Publication of this article is sponsored by the American Ophthalmological Society.
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