José‐Alain Sahel
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View article: A non-canonical AKT1-TERT pathway coordinates autophagy and ERphagy
A non-canonical AKT1-TERT pathway coordinates autophagy and ERphagy Open
Protein kinases canonically suppress autophagy, yet how cells activate autophagy during stress remains unclear. Here we reveal that AKT1 kinase promotes autophagy through a non-canonical pathway. AKT2 loss triggers compensatory AKT1 activa…
View article: Roadmap for direct and indirect translation of optogenetics into discoveries and therapies for humans
Roadmap for direct and indirect translation of optogenetics into discoveries and therapies for humans Open
View article: Comparison of Three-Dimensional Choroidal Contour in Patients With Neovascular Age-Related Macular Degeneration and Their Fellow Eyes
Comparison of Three-Dimensional Choroidal Contour in Patients With Neovascular Age-Related Macular Degeneration and Their Fellow Eyes Open
The study of choroidal contour may help to understand the pathological changes in age-related macular degeneration.
View article: Benchmarking diffusion models against state-of-the-art architectures for OCT fluid biomarker segmentation
Benchmarking diffusion models against state-of-the-art architectures for OCT fluid biomarker segmentation Open
Objectives Retinal diseases, major causes of vision impairment and blindness, are assessed using optical coherence tomography (OCT) scans. Automated report generation for retinal OCT scans, powered by deep learning, can help standardize in…
View article: Three-Dimensional Choroidal Vessels Assessment in Fellow Eyes of Patients With Central Serous Chorioretinopathy
Three-Dimensional Choroidal Vessels Assessment in Fellow Eyes of Patients With Central Serous Chorioretinopathy Open
Using a validated deep learning-based three-dimensional method, we observed changes in the choroidal vasculature in both CSC and fellow eyes.
View article: Corrigendum to “Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity.” Am J Ophthalmol. 2020; 219:87-100
Corrigendum to “Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity.” Am J Ophthalmol. 2020; 219:87-100 Open
View article: Three-Dimensional Choroidal Vessel Analysis in Asymmetric Bilateral Age-Related Macular Degeneration: A Comparison of Active Neovascular AMD and Dry AMD Fellow Eyes
Three-Dimensional Choroidal Vessel Analysis in Asymmetric Bilateral Age-Related Macular Degeneration: A Comparison of Active Neovascular AMD and Dry AMD Fellow Eyes Open
Eyes with neovascular AMD demonstrated higher choroidal vessel diameter, ChT, and CVI and decreased IVD compared to dry AMD eyes, possibly related to vessel congestion and inflammation in eyes with active choroidal neovascularization.
View article: Restoration of Sight with Electronic Retinal Prostheses
Restoration of Sight with Electronic Retinal Prostheses Open
Retinal prostheses aim at restoring sight to patients blinded by atrophy of photoreceptors using electrical stimulation of the inner retinal neurons. Bipolar cells can be targeted using subretinal implants, and their responses are then rel…
View article: Predictors of Final Visual Outcome in Patients With Leber Hereditary Optic Neuropathy Treated With Lenadogene Nolparvovec Gene Therapy
Predictors of Final Visual Outcome in Patients With Leber Hereditary Optic Neuropathy Treated With Lenadogene Nolparvovec Gene Therapy Open
Better baseline BCVA values and baseline thicker GCL and RNFL at OCT measurements are key predictive factors of the improved BCVA 1.5 years after treatment in patients with MT-ND4 LHON who received lenadogene nolparvovec at least 6 months …
View article: Uncovering the Characteristics of Pupil Cycle Time (PCT) in Neuropathies and Retinopathies
Uncovering the Characteristics of Pupil Cycle Time (PCT) in Neuropathies and Retinopathies Open
Pupil cycle time (PCT) estimates the dynamics of a biofeedback loop established between pupil size and stimulus luminance, size or colour. The PCT is useful for probing the functional integrity of the retinopupillary circuits, and is there…
View article: Rhegmatogenous Retinal Detachment in Ocular Toxoplasmosis: A Case Series
Rhegmatogenous Retinal Detachment in Ocular Toxoplasmosis: A Case Series Open
View article: Three-Dimensional Choroidal Contour Mapping in Healthy and Diseased Eyes
Three-Dimensional Choroidal Contour Mapping in Healthy and Diseased Eyes Open
Quantitative study of surface at CIB and COB in diseases helps in understanding the pathophysiological changes and provides a clinical biomarker in disease monitoring and treatment as well.
View article: Exclusively Macular Phenotype of Non-Syndromic MFSD8-Related Disease: A Case Report
Exclusively Macular Phenotype of Non-Syndromic MFSD8-Related Disease: A Case Report Open
Introduction: The purpose of this report was to highlight the clinical phenotype and imaging findings in a patient with an exclusively macular phenotype of non-syndromic MFSD8-related disease and to provide clinical evidence for pathogenic…
View article: Radiomics-Based OCT Analysis of Choroid Reveals Biomarkers of Central Serous Chorioretinopathy
Radiomics-Based OCT Analysis of Choroid Reveals Biomarkers of Central Serous Chorioretinopathy Open
These findings demonstrate the potential for radiomics features in clinical decision support for CSCR.
View article: <i>PCARE</i>-Associated Retinopathy – Genetics, Clinical Characteristics, and Natural History
<i>PCARE</i>-Associated Retinopathy – Genetics, Clinical Characteristics, and Natural History Open
PCARE-associated retinopathy is a severe generalized photoreceptor dystrophy with MA. Although visual field loss occurs early, useful central vision is often retained into late adulthood because of FS. Based on the age of onset of legal bl…
View article: Variants in CFAP410 cause a range of retinal and skeletal phenotypes
Variants in CFAP410 cause a range of retinal and skeletal phenotypes Open
View article: Transscleral optical phase imaging of retinal pigment epithelium in a case of chloroquine maculopathy
Transscleral optical phase imaging of retinal pigment epithelium in a case of chloroquine maculopathy Open
View article: Phenotypic and Genotypic Characterization of <i>RP1L1</i>-Associated Retinopathy
Phenotypic and Genotypic Characterization of <i>RP1L1</i>-Associated Retinopathy Open
Mutations in RP1L1 cause a spectrum of diseases, including autosomal dominant OMD, autosomal recessive OMD, and autosomal recessive rod-cone dystrophies, occasionally presenting with pseudovitelliform maculopathy.
View article: Three-Dimensional Choroidal Vessels Assessment in Diabetic Retinopathy
Three-Dimensional Choroidal Vessels Assessment in Diabetic Retinopathy Open
DR and DME eyes showed reduced MChVD and CVI, likely owing to microvascular changes leading to ischemia. These findings highlight the need for new choroidal biomarkers to better understand DR's pathogenic mechanisms.
View article: Reactivating the phototransduction cascade with a mutation agnostic gene therapy preserves vision in rod-cone dystrophies
Reactivating the phototransduction cascade with a mutation agnostic gene therapy preserves vision in rod-cone dystrophies Open
Rod-cone dystrophy (RCD) comprises genetic conditions where rod photoreceptor degeneration leads to cone loss, causing progressive vision loss. We investigated the phototransduction cascade in degenerating cones using two RCD mouse models …
View article: Artificial intelligence in choroid through optical coherence tomography: a comprehensive review
Artificial intelligence in choroid through optical coherence tomography: a comprehensive review Open
View article: Assessment of choroidal vessels in healthy eyes using 3-dimensional vascular maps and a semi-automated deep learning approach
Assessment of choroidal vessels in healthy eyes using 3-dimensional vascular maps and a semi-automated deep learning approach Open
View article: Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy
Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy Open
Importance Limited studies have assessed the long-term benefit/risk of gene therapy for Leber hereditary optic neuropathy (LHON). Objective To determine the safety and efficacy of lenadogene nolparvovec in patients with LHON due to the MT-…
View article: Inter-rater reliability in labeling quality and pathological features of retinal OCT scans: A customized annotation software approach
Inter-rater reliability in labeling quality and pathological features of retinal OCT scans: A customized annotation software approach Open
Objectives Various imaging features on optical coherence tomography (OCT) are crucial for identifying and defining disease progression. Establishing a consensus on these imaging features is essential, particularly for training deep learnin…
View article: Extensive macular atrophy with pseudodrusen-like appearance (EMAP) clinical characteristics, diagnostic criteria, and insights from allied inherited retinal diseases and age-related macular degeneration
Extensive macular atrophy with pseudodrusen-like appearance (EMAP) clinical characteristics, diagnostic criteria, and insights from allied inherited retinal diseases and age-related macular degeneration Open
Extensive macular atrophy with pseudodrusen-like appearance (EMAP) was first described in France in 2009 as a symmetric and rapidly progressive form of macular atrophy primarily affecting middle-aged individuals. Despite the recent identif…
View article: Three-Dimensional Choroidal Vessels Assessment in Age-Related Macular Degeneration
Three-Dimensional Choroidal Vessels Assessment in Age-Related Macular Degeneration Open
Eyes with dAMD demonstrated increased MChVD and IVD and decreased ChT and CVI, possibly related to smaller-vessel atrophy and larger-vessel dilation.
View article: Freqformer: Frequency-Domain Transformer for 3-D Reconstruction and Quantification of Human Retinal Vasculature
Freqformer: Frequency-Domain Transformer for 3-D Reconstruction and Quantification of Human Retinal Vasculature Open
Objective: To achieve accurate 3-D reconstruction and quantitative analysis of human retinal vasculature from a single optical coherence tomography angiography (OCTA) scan. Methods: We introduce Freqformer, a novel Transformer-based model …
View article: Meta-analysis of treatment outcomes for patients with m.11778G>A MT-ND4 Leber hereditary optic neuropathy
Meta-analysis of treatment outcomes for patients with m.11778G>A MT-ND4 Leber hereditary optic neuropathy Open
View article: Lessons learned from the RE(ACT) conference on medical devices for rare diseases
Lessons learned from the RE(ACT) conference on medical devices for rare diseases Open
The field of rare disease therapeutics has witnessed significant growth in recent years, highlighting the need for diverse therapeutic approaches to cater to the unique needs of individuals with rare diseases. Rare disease therapies encomp…
View article: Prevention of Sunlight-Induced Cell Damage by Selective Blue-Violet-Light-Filtering Lenses in A2E-Loaded Retinal Pigment Epithelial Cells
Prevention of Sunlight-Induced Cell Damage by Selective Blue-Violet-Light-Filtering Lenses in A2E-Loaded Retinal Pigment Epithelial Cells Open
Blue light accelerates retinal aging. Previous studies have indicated that wavelengths between 400 and 455 nm are most harmful to aging retinal pigment epithelia (RPE). This study explored whether filtering these wavelengths can protect ce…