Gene Therapy for Achromatopsia (CNGB3)
AchromatopsiaA clinical trial of AAV - CNGB3 retinal gene therapy for patients with achromatopsia
Visual Activity Evoked by Infrared in Humans After Dark Adaptation
Age Related Macular DegenerationRetinitis Pigmentosa2 moreThis pilot study will evaluate the visual response to infrared (IR) in humans after dark adaptation. The investigators plan to determine which wavelength and intensity the human eye is most sensitive too, using a broad spectrum light source and wavelength-specific bandpass filters. The investigators will then evaluate the electrophysiologic response in healthy humans to IR, followed by studies in those with specific retinal diseases. The long-term goal of this research is to better understand the role that IR plays in visual function, and whether this can be manipulated to allow for vision in certain retinal pathologies that result from loss of photoreceptor cells. The investigators central objective is to test the electrophysiologic response to IR in the dark-adapted retinal and visual pathways. The investigators central hypothesis is that IR evokes a visual response in humans after dark adaptation, and the characteristics of this response suggest transient receptor potential (TRP) channel involvement. The investigators rationale is that a better understanding of how IR impacts vision may allow for an alternative mechanism for vision in a number of diseases that cause blindness from the degradation or loss of function of photoreceptor cells. The investigators will test the investigators hypothesis with the following Aims: Aim 1: To determine the optimal IR wavelength for visual perception in dark-adapted human participants. The investigators hypothesize that the healthy human eye will detect IR irradiation, with a maximum sensitivity at a specific wavelength. Using a broad-spectrum light source with wavelength-specific bandpass filters, the spectral range of visual perception to IR will be evaluated. The same will be done on colorblind participants. Aim 2: To test the electrophysiologic response to IR in healthy humans after dark adaptation. The investigators hypothesize that IR will elicit an amplitude change on electroretinography (ERG) and visual evoked potential (VEP) responses after dark adaptation in healthy human participants. Participants will be tested with both test modalities to evaluate their response to IR. Aim 3: To test the electrophysiologic response to IR after dark adaptation in humans with certain retinal diseases. Participants with retinitis pigmentosa, age related macular degeneration and congenital stationary night blindness, will be tested. Results will be compared to baselines and to those of healthy participants. The investigators hypothesize that there will be a response to IR on ERG and VEP, which will provide clues to the retinal cell layer location of the response to IR and the nature of potential TRP channel involvement.
Autostereoscopic Dynamic Near Vision Testing
Visual SuppressionAmblyopia1 moreThis is an analysis of tests of near vision. Visual perception testing using a novel program on an interactive three dimensional electronic device: Autostereoscopic dynamic near games for monocular visual acuity, stereopsis and color are compared with other conventional or similar tests.
Effect of Protanopia on the Brightness Perception of Brake Lights
Color BlindnessRed1 moreThe aim of the offered project is to investigate the influence of protanopia (red blindness) or protanomaly (red vision weakness) on the recognizability of red brake lights with the help of a test person study. From this, estimates of the influence of protanopia or protanomaly on driving ability are to be derived. If a relevant influence can be demonstrated in the study, recommendations for action for the legislator will be made. Translated with www.DeepL.com/Translator
Biomarker for Duchenne Muscular Dystrophy
Increased Lordosis/ScoliosisHyporeflexia6 moreInternational, multicenter, observational, longitudinal study to identify biomarker/s for Duchenne Muscular Dystropy (DMD) and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s.
Performance of Red Tinted Contact Lenses on Colour Defects
Color Vision DefectsColor BlindnessThis study aimed to relate and compare the performance of 4 types of red-tinted contact lenses (CL) with the Total Error Score (TES) from the Farnsworth-Munsell 100 Hue test on colour deficient subjects. Only 6 subject with colour vision defect was tested in this study.
Clinical and Genetic Characterization of Individuals With Achromatopsia
AchromatopsiaThe purpose of this study is to identify individuals with achromatopsia caused by mutations in the CNGB3 gene and characterize their clinical condition using several tests of visual function every 6 months for up to 1.5 years.
Evaluating Color Perception Under LED Red/Green and Green Dominant Light
Color BlindnessAcquiredThe investigators are testing a Light-emitting Diode (LED) flashlight from First-Light™ USA called the Tomahawk MC Tactical Light to determine the range of colors people are able to see with these flashlights at night. The flashlight has been designed to reduce visibility of the user and uses a combination of green and red LED lamps to achieve this. In this study investigators wish to determine how well a subject can differentiate colors at night in a quantifiable manner. Investigators will use the Farnsworth Munsell 100 hue test which requires the user to put shades of red, green, blue and yellow into progressive color order which is scored according to the manufactures specifications.
Natural History Study for Achromatopsia
AchromatopsiaIn preparation for human clinical trials we intend to undertake a detailed phenotypic study to help to identify patients who may be suitable for therapeutic intervention. In addition, with the recent availability of advanced imaging modalities, further detailed phenotypic investigations will also be valuable in helping to probe the relationship between structure and function and may shed light on disease mechanisms.
Prevalence and Severity of Colour Vision Deficiency Among Turkish Children
CAD Test; Children's Vision; Colour Assessment; Colour Vision; TurkeyTo evaluate the usability of the Colour Assessment and Diagnosis (CAD) test in children. To determine the prevalence of colour vision deficiency (CVD) among Turkish children, to identify the class of deficiency and to quanify severity of loss.