Cpap at Delivery Room for Preterm Infants
Mechanical VentilationRetinal Disease2 moreThe objective of the study is to determine if CPAP applied within less than 15 min of life in the DR reduces the necessity of mechanical ventilation and surfactant during the first 5 days of life.
Natural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or LRAT...
Leber Congenital Amaurosis (LCA)Retinitis Pigmentosa (RP)To evaluate the natural history of visual function in subjects with IRD phenotypically diagnosed as Leber congenital amaurosis (LCA) or retinitis pigmentosa (RP) caused by RPE65 or LRAT gene mutations.
DETECT and Retinal Outcomes in Hypertension
HypertensionRetinal Disorder1 moreThe purpose of this study is to study the impact of blood pressure on cognitive performance.
Reduction of Foveal Sensitivity in Eyes With Diabetic Macular Edema
Diabetic RetinopathyClinically Significant Macular EdemaClinically significant macular edema (CSME) is a thickening of the macula associated with the risk of visual loss, which increases its centre is involved. Functional evaluation of the macula relies on best corrected visual acuity; however, neural dysfunction in diabetic eyes appears before retinal thickening and visual loss. Retinal sensitivity decreases in eyes with CSME, but it is unknown whether it differs between eyes with and without centre thickening. Aim: To compare the reduction of foveal sensitivity in eyes with CSME, with and without centre thickening.
Genes Associated With Bronchopulmonary Dysplasia and Retinopathy of Prematurity
Bronchopulmonary DysplasiaRetinopathy of Prematurity2 moreBackground: - Some premature babies develop bronchopulmonary dysplasia (BPD) and retinopathy of prematurity (ROP). BPD and ROP are long-term chronic diseases of the lungs and eyes, respectively. BPD is associated with receiving mechanical ventilation to treat respiratory distress syndrome, and causes lung inflammation and scarring. ROP is caused by poor development of blood vessels in the eyes, and may lead to blindness. Because not all premature babies develop BPD or ROP, researchers want to study the genes that could be associated with these diseases. They will look at both premature infants and their parents to see if there is a genetic component to BPD and ROP. Objectives: - To study genes that may be associated with BPD and ROP. Eligibility: Premature babies born with a weight less than or equal to 1,250 grams. Parents of the premature babies. Design: Parents will answer questions about the mother s health and pregnancy. Delivery and medical information will be collected during the baby s hospitalization for the first month after birth. Parents will provide a saliva sample from the inside of the cheek. A saliva sample will also be collected from the baby within 28 days of birth. If the baby needs tracheal aspiration (removal of fluid from the throat), tracheal fluid samples will also be collected. Parents will have followup interviews about their child s health 6 months, 12 months, and yearly for up to 6 years after birth. This is a genetic study only. Treatment will not be provided as part of this study.
Prevalence of DIAbetic RETinopathy and Impact of Genetic Factors in the Development of Diabetic...
Diabetic RetinopathyDiabetic Macular Edema1 moreThe aim of the study is to find out prevalence and individual stages of Diabetic Retinopathy in patients with type 1 and type 2 DM verified based on complex ophthalmologic measurements in Slovak Republic. The outcome of the project will be epidemiology survey, prevalence of diabetic retinopathy (DR) and diabetic macular edema (DME) in relation to type and duration of diabetes mellitus and risk factors. Project will also identify genetic factors linked with the diseases.
Monocyte Chemoattractant Protein-1 2518A/G Polymorphism
Diabetic RetinopathyThe pathogenesis of proliferative diabetic retinopathy (PDR) remains poorly understood. Recent studies have implicated that monocyte chemoattractant protein-1 (MCP-1) is associated with diabetic microvascular or macrovascular complications. However, the relationship between SNP polymorphism c.2518A/G in the MCP-1 gene with diabetic retinopathy remains controversial. In the present study, we evaluated the association of a single nucleotide polymorphism (SNP) in the MCP-1 gene with diabetic retinopathy (DR) and diabetic macular edema (DME) in Chinese population from Southern China with type 2 diabetes.
Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases.
Retinal DiseaseBestrophinopathy3 moreBackground: Autosomal recessive bestrophinopathy (ARB) is one of 5 blinding eye diseases caused by mutations in the gene BEST1. These diseases, collectively termed "bestrophinopathies" include ARB, Best vitelliform macular dystrophy (BVMD), adult-onset vitelliform dystrophy (AVMD), autosomal dominant vitreoretinalchoroidopathy (ADVIRC) and retinitis pigmentosa (RP) . Objective: To collect DNA/RNA and skin samples from individuals with ARB or other diseases due to mutations in the gene BEST1. These models will be used to identify and test therapeutic approaches to treating these diseases. Design: Study involves a one time donation of a skin punch biopsy and whole blood. Once the skin biopsy is obtained, skin fibroblasts will be isolated, which will be reprogrammed into iPSCs. RPE cells will be derived from the iPSCs
Biomarkers of Diabetic Retinopathy Progression
Type 2 Diabetes MellitusMild Nonproliferative Diabetic RetinopathyThe purpose of this study is to validate a predictive model of diabetic retinopathy progression in patients with diabetes mellitus type 2 patients to clinically significant macular edema (CSME) needing treatment either photocoagulation or intravitreal injections (ITV) using non-invasive techniques.
Registry for Severe ROP and Treatment on Visual Outcomes
Retinopathy of PrematurityThe purpose of this study is to determine what factors influence the visual outcomes of infants with severe retinopathy of prematurity (ROP) and to monitor the outcomes.