A5026336008- Retinal Diseases and Treatments
- Retinal Development and Disorders
- Glaucoma and retinal disorders
- Retinal Imaging and Analysis
- Retinal and Optic Conditions
- Connexins and lens biology
- Cerebral Venous Sinus Thrombosis
- Complement system in diseases
- Ocular Oncology and Treatments
- Receptor Mechanisms and Signaling
- Vascular Malformations Diagnosis and Treatment
- Pancreatic function and diabetes
- Advanced Proteomics Techniques and Applications
- Blood groups and transfusion
Cleveland Clinic Lerner College of Medicine
2019-2024
Case Western Reserve University
2019-2024
Cleveland Eye Clinic
2019-2024
Cleveland Clinic
2019-2024
Mutations in Tissue Inhibitor of Metalloproteinases 3 (TIMP3) cause Sorsby's Fundus Dystrophy (SFD), a dominantly inherited, rare form macular degeneration that results vision loss. TIMP3 is synthesized primarily by retinal pigment epithelial (RPE) cells, which constitute the outer blood-retinal barrier. One major function RPE synthesis and transport vital nutrients, such as glucose, to retina. Recently, metabolic dysfunction cells has emerged an important contributing factor degenerations....
Abstract Choroidal neovascularization (CNV) leads to loss of vision in patients with Sorsby Fundus Dystrophy (SFD), an inherited, macular degenerative disorder, caused by mutations the Tissue Inhibitor Metalloproteinase-3 ( TIMP3 ) gene. SFD closely resembles age-related degeneration (AMD), which is leading cause blindness elderly population Western hemisphere. Variants gene have recently been identified AMD. A majority AMD also lose as a consequence choroidal (CNV). Thus, understanding...
Sorsby Fundus Dystrophy (SFD) is a rare inherited autosomal dominant macular degeneration caused by specific mutations in TIMP3. Patients with SFD present pathophysiology similar to the more common Age-related Macular Degeneration (AMD) and loss of vision due both choroidal neovascularization geographic atrophy. Previously, it has been shown that RPE AMD part oxidative stress. We hypothesized mechanisms may be at play SFD. The objective this study was evaluate whether mice carrying...
Sorsby's fundus dystrophy (SFD) is an inherited blinding disorder caused by mutations in the tissue inhibitor of metalloproteinase-3 (TIMP3) gene. The SFD pathology macular degeneration with subretinal deposits and choroidal neovascularization (CNV) closely resembles that more common age-related (AMD). objective this study was to gain further insight into molecular mechanism(s) which mutant TIMP3 induces CNV. In we demonstrate hyaluronan (HA), a large glycosaminoglycan, elevated plasma...
Abstract Mutations in Tissue Inhibitor of Metalloproteinases 3 (TIMP3) cause Sorsby’s Fundus Dystrophy (SFD), a dominantly inherited, rare form macular degeneration that results vision loss. TIMP3 is synthesized primarily by retinal pigment epithelial (RPE) cells, which constitute the outer blood-retinal barrier. Quantitative proteomics and RNAseq analysis on choroid/RPE mice expressing mutant identified dysregulation metabolic processes. We examined effects RPE metabolism using human...
<title>Abstract</title> Background Sex as a biological variable is not common consideration in molecular mechanistic or preclinical studies of retinal diseases. Understanding the sexual dimorphism adult RPE and retina under physiological conditions an important first step improving our understanding sex-based physio-pathological mechanisms. Methods Isobaric tags for relative absolute quantitation (iTRAQ) were used quantitative proteomics male female mouse (10 mice each sex tissue type)....
Sex as a biological variable is not common consideration in molecular mechanistic or preclinical studies of retinal diseases. Understanding the sexual dimorphism adult RPE and retina under physiological conditions an important first step improving our understanding sex-based physio-pathological mechanisms.