Natural History of Eye Diseases Related to ABCA4 Mutations
Retinal DegenerationABCA4-Related RetinopathiesBackground: - The ABCA4 gene contains a blueprint for the ABCA4 protein. When this protein is absent or faulty (such as in Stargardt s disease), waste material from dead cells collects in the eye. The waste material may cause other cells in the eye to die. This can lead to the loss of vision. Researchers want to look at blood and skin samples from people with ABCA4 gene mutations to study related eye diseases. Objectives: - To study eye diseases that are related to mutations in the ABCA4 gene. Eligibility: - Individuals at least 12 years of age who have ABCA4 gene mutations. Design: The study requires 12 visits to the National Eye Institute clinic over 10 years. In the first year, there will be three visits. After the first year, participants will have one visit a year for 9 more years. Participants will be screened with a physical exam, full eye exam, and medical history. The eye exam will check eye pressure, light and color sensitivity, and retina function. Participants will provide a blood sample and a skin tissue sample for study. No treatment will be provided as part of this study.
Safety And Tolerability Study Of RN6G In Patients With Dry, Age-Related Macular Degeneration
Age-Related MaculopathyAge-Related Maculopathies3 moreThe purpose of this study is to determine the safety and tolerability of RN6G in patients with dry, age-related macular degeneration.
A Multi-Center Study of Reading Rehabilitation in Macular Disease
Age Related MaculopathyRetinal DegenerationThe purpose of this study is to measure the effectiveness of a newly-designed oculomotor training program for patients with macular disease, including age-related macular degeneration.
Measuring Reading Rehabilitation Outcomes
Age Related MaculopathyRetinal DegenerationThe purpose of this study is to measure the effectiveness of a newly-designed oculomotor training program for patients with age-related macular degeneration.
Evaluation of Discomfort Associated With Scleral Depression During Retina Examinations
Retina--DiseasesRetinal Detachment1 moreScleral depression is an important technique used to examine the peripheral retina but often causes patient discomfort. The goal of this study was to compare levels of discomfort during scleral depression with a Schocket scleral depressor and cotton tipped applicator.
Argus® II Retinal Prosthesis System Post-Market Surveillance Study
Outer Retinal DegenerationRetinitis PigmentosaThis post-market surveillance study is conducted in the European Economic Area where Argus II has been CE certified for use in outer retinal degeneration patients.
Saffron Supplementation in Stargardt's Disease
Retinal DegenerationGenetic Disease2 moreThe general area of research in which this project has been designed is that of retinal degeneration related to mutations in the ABCR gene, responsible of Stargardt disease/fundus flavimaculatus retinal dystrophy (STD/FF). STG/FF is one of the major causes of vision impairment in the young age. STG/FF originates typically from the dysfunction and loss of cone and rod photoreceptors, developing through a photo-oxidative mechanism. The major disease locus is the central retina, i.e. the macula, whose neurons have the highest density and underlie critical functions such as visual acuity, color vision and contrast sensitivity. There is currently no cure for STG/FF. Recent experimental findings indicate that Saffron, derived from the pistils of Crocus Sativus, may have a role as a retinal neuro-protectant against oxidative damage. The stigmata of Crocus sativus contain biologically high concentrations of chemical compounds including crocin, crocetin, whose multiple C=C bonds provide the antioxidant potential. In addition it is well known that this compound is safe and free of adverse side effects. The aim of this research is to investigate the influence of short-term Saffron supplementation on retinal function in STG/FF patients carrying ABCR mutations. The macular cone-mediated electroretinogram (ERG) in response to high-frequency flicker (focal flicker ERG) will be employed as the main outcome variable. Secondary outcome variable will be the psychophysical cone system recovery after bleaching.
Effectiveness and Safety of Adipose-Derived Regenerative Cells for Treatment of Glaucomatous Neurodegeneration...
Retinal DegenerationPrimary Open-Angle GlaucomaAutologous adipose-derived regenerative cells (ADRC) extracted using Celution 800/CRS System (Cytori Therapeutics Inc) from a portion of the fat harvested from the patient's front abdominal wall. ADRC will be administered one-time into subtenon space of patient's eyeball. This is a single arm study with no control. All patients receive cell therapy.
Quality of Life Measures in Patients With Retinal Degeneration
Retinal DegenerationInherited retinal degeneration (IRD) is a major cause of blindness and partial loss of vision cases in the UK and starts at an early age. The purpose of this observational study is to use the results of two questionnaires and a computerised test testing contrast sensitivity, to assess the impact of IRD on quality of life. This study will involve collecting data from patients with IRD, but also collecting data from normal controls.
Color Vision as a Measure for Inherited Retinal Diseases
Healthy VolunteerRetinal Disease1 moreBackground: - The purpose of this study is to find out whether color vision measured with the Cambridge Color Test is a good way to examine the severity of inherited retinal diseases (IRDs). IRDs are a major cause of vision loss worldwide, but very little is known about how the diseases affect color vision over time. This study will tell us if color vision may be used to track changes in inherited retinal diseases over time. Objectives: - To improve understanding of color vision as a way to measure changes in inherited retinal diseases. Eligibility: People 5 years of age or older who have an IRD. Healthy volunteers at least 5 years of age. Design: Participants will make at least one visit to the National Eye Institute clinic. If they sign up for more tests, they may have up to three visits to the NEI clinic. Participants will be asked questions about their medical and eye history. Participants will be given an eye exam, including eye drops to dilate their pupils. They will take the Cambridge Color Test, which includes looking at a monitor and pressing a button, and arranging colored circles. Several other tests may be offered, but participants can decline to take them. Treatment will not be provided as part of this study.