A5009514142- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Glaucoma and retinal disorders
- Ophthalmology and Visual Impairment Studies
- Visual perception and processing mechanisms
- Retinal Imaging and Analysis
- Ocular Disorders and Treatments
- Photoreceptor and optogenetics research
- Ergonomics and Musculoskeletal Disorders
- Olfactory and Sensory Function Studies
- Retinal and Optic Conditions
- Ocular Oncology and Treatments
- Corneal Surgery and Treatments
- Congenital Ear and Nasal Anomalies
- Neural and Behavioral Psychology Studies
- Stroke Rehabilitation and Recovery
- Antioxidant Activity and Oxidative Stress
- Ophthalmology and Eye Disorders
- Algal biology and biofuel production
- Corneal surgery and disorders
- Writing and Handwriting Education
- Migraine and Headache Studies
- Edible Oils Quality and Analysis
- Spinal Fractures and Fixation Techniques
- Emergency and Acute Care Studies
Penn Presbyterian Medical Center
2019-2022
University of Pennsylvania
2019-2022
Visual Sciences (United States)
2021
California University of Pennsylvania
2020
University of Houston
2015-2018
University of California, Berkeley
2017-2018
Abstract CEP290-associated Leber congenital amaurosis type 10 (LCA10) is a retinal disease resulting in childhood blindness. Sepofarsen an RNA antisense oligonucleotide targeting the c.2991+1655A>G variant CEP290 gene to treat LCA10. In this open-label, phase 1b/2 ( NCT03140969 ), 12-month, multicenter, multiple-dose, dose-escalation trial, six adult patients and five pediatric received ≤4 doses of intravitreal sepofarsen into worse-seeing eye. The primary objective was evaluate safety...
A first-in-human clinical trial of gene therapy in Leber congenital amaurosis due to mutations the
Signaling of vision to the brain starts with retinal phototransduction cascade which converts visible light from environment into chemical changes. Vision impairment results when mutations inactivate proteins cascade. A severe monogenically inherited blindness, Leber congenital amaurosis (LCA), is caused by in GUCY2D gene, leading a molecular defect production cyclic GMP, second messenger phototransduction. We studied two patients GUCY2D-LCA who were undergoing gene augmentation therapy....
Purpose: To use supervised machine learning to predict visual function from retinal structure in retinitis pigmentosa (RP) and apply these estimates CEP290- NPHP5-associated Leber congenital amaurosis (LCA) determine the potential for functional improvement. Methods: Patients with RP (n = 20) LCA due CEP290 12) or NPHP5 6) mutations were studied. A patient but mild degeneration was included. patients had cone-mediated macular function. technique used associate perimetric sensitivities local...
PurposeTo understand consequences of reconstituting cone photoreceptor function in congenital binocular blindness resulting from mutations the centrosomal protein 290 (CEP290) gene.DesignPhase 1b/2 open-label, multicenter, multiple-dose, dose-escalation trial.ParticipantsA homogeneous subgroup 5 participants with light perception (LP) vision at time enrollment (age range, 15–41 years) selected for detailed analyses. Medical histories 4 were consistent blindness, whereas 1 participant showed...
Visual performance in patients with bilateral central field loss is related to fixation stability. This study evaluated the repeatability of visual-fixation parameters loss, measured MP-1 microperimeter for durations on order 15 30 seconds.Bivariate contour ellipse area (BCEA), and eccentricity meridian preferred retinal locus (PRL) were determined 56 eyes patients, sampled at two investigational sites. Repeatability agreement assessed by estimating 95% limits each parameter from...
Abstract Background Inherited retinal degenerations (IRDs) affect daylight and night vision to different degrees. In the current work, we devise a method quantify mobility under dark-adapted conditions in patients with severe childhood blindness due Leber congenital amaurosis (LCA). Mobility thresholds from two LCA genotypes are compared measurements using full-field stimulus test (FST), conventional desktop outcome measure of rod vision. Methods A device consisting vertical LED strips on...
Gene augmentation therapy is being planned for GUCY2D-associated Leber congenital amaurosis (LCA). To increase our understanding of the natural history GUCY2D-LCA, patients were evaluated twice with an interval 4 to 7 years between visits using safety and efficacy outcome measures previously determined be useful monitoring this disorder. In group molecularly-identified LCA (n = 10; ages 7–37 at first visit), optical coherence tomography (OCT) was used measure foveal cone outer nuclear layer...
Attending to peripheral visual targets while maintaining central fixation, a process that involves covert attention, reduces fixation stability. Here, we tested the hypothesis changes in stability induced by viewing contribute crowding vision increasing positional uncertainty. We first assessed whether was less stable during versus (foveal) for both crowded and uncrowded stimuli. then associated with extent of crowding. Fourteen participants performed tumbling E orientation discrimination...
To investigate the validity and reliability of macular rod photoreceptor function measurement with a microperimeter.Macular sensitivity in dark-adapted retinitis pigmentosa (RP) patients (22 eyes; 9-67 years age) controls (five 22-55 was assessed modified Humphrey field analyzer (mHFA), as well scotopic microperimeter (Nidek MP-1S). Sensitivity loss (SL) estimated at rod-mediated locations. All RP eyes were re-evaluated second visit 6 months later. The dynamic range MP-1S expanded...
Observers with central field loss typically fixate within a non-foveal region called the preferred retinal locus, which can include localized sensitivity losses, or micro-scotomas (Krishnan and Bedell, 2018). In this study, we simulated at fovea in peripheral retina to assess their impact on reading speed. Ten younger (<36 years old) 8 older (>50 naïve observers normal vision monocularly read high and/or low contrast sentences, presented above critical print size for young 5 10 deg inferior...
Our eyes are in constant motion even when we attempt to hold our gaze steady. The precision eye positions during fixation — stability is an index of oculomotor control, and has been proposed as a biomarker for early diagnosis certain neurological visual disorders. However, it difficult compare across studies because the different methodologies used data collection quantification. goal was provide single metric quantify stability. We measured 1° cross multiple trials 70s 11 observers, using...
Macular degeneration typically results in heterogeneous binocular central visual defects. Currently available approaches to assess field, like the microperimetry, can test only one eye at a time. Therefore, they cannot explain how defects each affect interaction and real-world function. Dichoptic stimulus presentation with gaze-controlled system could provide reliable measure of monocular/binocular fields. However, dichoptic simultaneous eye-tracking are challenging because optical devices...
Purpose: The purpose of this study was to evaluate rod and cone function outer retinal structure within macular lesions, surrounding extralesional areas patients with autosomal dominant Best vitelliform dystrophy caused by BEST1 mutations. Methods: Seventeen from seven families were examined dark- light-adapted chromatic perimetry optical coherence tomography. Subsets had long-term follow-up (14–22 years, n = 6) dark-adaptation kinetics measured (n 5). Results: Within central lesions large...