Ian J. Constable
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View article: Self-Supervised Learning for Improved Optical Coherence Tomography Detection of Macular Telangiectasia Type 2
Self-Supervised Learning for Improved Optical Coherence Tomography Detection of Macular Telangiectasia Type 2 Open
Importance Deep learning image analysis often depends on large, labeled datasets, which are difficult to obtain for rare diseases. Objective To develop a self-supervised approach for automated classification of macular telangiectasia type …
View article: Angiographic biomarkers are significant predictors of treatment response to intravitreal aflibercept in diabetic macular edema
Angiographic biomarkers are significant predictors of treatment response to intravitreal aflibercept in diabetic macular edema Open
This prospective single-center study aims to identify biomarkers that predict improvement in best-corrected visual acuity (BCVA) and central retinal thickness (CRT) at 6 months, in 76 eyes with diabetic macular edema (DME) treated monthly …
View article: Longitudinal Analysis of Functional and Structural Outcome Measures in PRPH2-Associated Retinal Dystrophy
Longitudinal Analysis of Functional and Structural Outcome Measures in PRPH2-Associated Retinal Dystrophy Open
Serial measurements of UWF-FAF-derived TLS and DAF showed slow expansion. Total macular volume might be a more sensitive measure than MMS in detecting disease progression.
View article: SIBLING CONCORDANCE IN SYMPTOM ONSET AND ATROPHY GROWTH RATES IN STARGARDT DISEASE USING ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE
SIBLING CONCORDANCE IN SYMPTOM ONSET AND ATROPHY GROWTH RATES IN STARGARDT DISEASE USING ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE Open
Purpose: To investigate concordance in symptom onset, area of dark autofluorescence (DAF), and growth rate (GR) between Stargardt disease siblings at an age-matched time point. Methods: In this retrospective longitudinal study of sibling p…
View article: Genotype-Specific Lesion Growth Rates in Stargardt Disease
Genotype-Specific Lesion Growth Rates in Stargardt Disease Open
Reported growth rates (GR) of atrophic lesions in Stargardt disease (STGD1) vary widely. In the present study, we report the longitudinal natural history of patients with confirmed biallelic ABCA4 mutations from five genotype groups: c.607…
View article: Association of Smoking, Alcohol Consumption, Blood Pressure, Body Mass Index, and Glycemic Risk Factors With Age-Related Macular Degeneration
Association of Smoking, Alcohol Consumption, Blood Pressure, Body Mass Index, and Glycemic Risk Factors With Age-Related Macular Degeneration Open
This study provides genetic evidence that increased alcohol intake may be a causal risk factor for GA. As there are currently no known treatments for GA, this finding has important public health implications. These results also support pre…
View article: Ultra-widefield fundus autofluorescence derived atrophy expansion rate in ABCA4-associated retinopathy is dependent on mutation severity
Ultra-widefield fundus autofluorescence derived atrophy expansion rate in ABCA4-associated retinopathy is dependent on mutation severity Open
View article: Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence
Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence Open
View article: Edge of Scotoma Sensitivity as a Microperimetry Clinical Trial End Point in <i>USH2A</i> Retinopathy
Edge of Scotoma Sensitivity as a Microperimetry Clinical Trial End Point in <i>USH2A</i> Retinopathy Open
ESS may decrease the duration or sample size of treatment trials in USH2A retinopathy.
View article: Retinal pigment epithelium and age‐related macular degeneration: A review of major disease mechanisms
Retinal pigment epithelium and age‐related macular degeneration: A review of major disease mechanisms Open
Age‐related macular degeneration (AMD) is a progressive degenerative disease that is the leading cause of vision loss in the elderly population. Degeneration/dysregulation of the retinal pigment epithelium (RPE), a supportive monolayer of …
View article: Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel <i>ABCA4</i> deletion–insertion variant causing a splicing defect
Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel <i>ABCA4</i> deletion–insertion variant causing a splicing defect Open
Background Deletion–insertion (delins) variants in the retina‐specific ATP‐binding cassette transporter gene, subfamily A, member 4 ( ABCA4 ) accounts for <1% in Stargardt disease. The consequences of these delins variants on splicing cann…
View article: A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration
A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration Open
View article: Effect of Ciliary Neurotrophic Factor on Retinal Neurodegeneration in Patients with Macular Telangiectasia Type 2
Effect of Ciliary Neurotrophic Factor on Retinal Neurodegeneration in Patients with Macular Telangiectasia Type 2 Open
View article: Surgical Removal of Internal Limiting Membrane and Layering of AAV Vector on the Retina Under Air Enhances Gene Transfection in a Nonhuman Primate
Surgical Removal of Internal Limiting Membrane and Layering of AAV Vector on the Retina Under Air Enhances Gene Transfection in a Nonhuman Primate Open
ILM appears to be the predominate barrier to AAV transfection. An efficacious and safe method of AAV2 gene delivery, taking into account the potential need for repeat treatments, appears to be the surgical removal of ILM and layering of AA…
View article: Subanalysis of data from rAAV.sFLT-1 phase 1 and 2a randomized gene therapy trials for wet age-related macular degeneration.
Subanalysis of data from rAAV.sFLT-1 phase 1 and 2a randomized gene therapy trials for wet age-related macular degeneration. Open
View article: Intrasession Repeatability and Interocular Symmetry of Foveal Avascular Zone and Retinal Vessel Density in OCT Angiography
Intrasession Repeatability and Interocular Symmetry of Foveal Avascular Zone and Retinal Vessel Density in OCT Angiography Open
CRs and LAs can be used to set a threshold for true changes in FAZA and SRVD in longitudinal studies of healthy individuals.
View article: Intersession Test–Retest Variability of Microperimetry in Type 2 Macular Telangiectasia
Intersession Test–Retest Variability of Microperimetry in Type 2 Macular Telangiectasia Open
Our results have implications for the design of clinical trials in mactel.
View article: Safety and post hoc analysis of subretinal rAAV.sFLT-1 for wet age-related macular degeneration following a phase 2a randomized clinical trial
Safety and post hoc analysis of subretinal rAAV.sFLT-1 for wet age-related macular degeneration following a phase 2a randomized clinical trial Open
View article: Phase 2a Randomized Clinical Trial: Safety and Post Hoc Analysis of Subretinal rAAV.sFLT-1 for Wet Age-related Macular Degeneration
Phase 2a Randomized Clinical Trial: Safety and Post Hoc Analysis of Subretinal rAAV.sFLT-1 for Wet Age-related Macular Degeneration Open
View article: Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration
Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration Open
View article: 248. Results of a Phase 1 and 2a Trial on rAAV. sFlt-1 in Treatment of Wet Age-Related Macular Degeneration
248. Results of a Phase 1 and 2a Trial on rAAV. sFlt-1 in Treatment of Wet Age-Related Macular Degeneration Open
Purpose: To assess safety following subretinal rAAV.sFlt-1 injection at one year. Secondary endpoints were assessed for evidence of biologic activity. Methods: Under the protocol, Phase 1 followed a dose escalation design where eligible su…
View article: A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants Open
View article: 394. Baseline Data for Patients Participating in the Phase 2a rAAV.sFlt-1 Gene Therapy Trial for Exudative Age-Related Macular Degeneration
394. Baseline Data for Patients Participating in the Phase 2a rAAV.sFlt-1 Gene Therapy Trial for Exudative Age-Related Macular Degeneration Open
rAAV.sFlt-1 has the potential to provide long-term treatment of retinal neovascular diseases following a single injection by driving expression of sFlt-1, a potent (Kd 10 pM), naturally-occurring VEGF inhibitor. Here we present the baselin…