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Gene therapy ophthalmology

Solmaz Abdolrahimzadeh, Andrea Maria Plateroti, Santi Maria Recupero, Alessandro Lambiase
Neurofibromatosis type 1, tuberous sclerosis complex, and Von Hippel-Lindau disease, historically classified as the phakomatoses, are hereditary multisystem disorders characterized by the presence of hamartoma, which carry the risk of malignant transformation. The alteration of tumor suppressor genes seems to be at the basis of their pathophysiogenetic mechanism. Lisch and choroidal nodules in neurofibromatosis type 1, retinal astrocytomas in tuberous sclerosis complex, and retinal capillary hemangioma in Von Hippel-Lindau disease are the principal ophthalmic hamartomatous manifestations...
2016: Journal of Ophthalmology
Jana Zímová, Pavlína Zímová
Trichotillomania (TTM) is defined by the Diagnostics and Statistic Manual of Mental Disorders, 4th edition (DMS-IV) as hair loss from a patient`s repetitive self-pulling of hair. The disorder is included under anxiety disorders because it shares some obsessive-compulsive features. Patients have the tendency towards feelings of unattractiveness, body dissatisfaction, and low self-esteem (1,2). It is a major psychiatric problem, but many patients with this disorder first present to a dermatologist. An 11-year-old girl came to our department with a 2-month history of diffuse hair loss on the frontoparietal and parietotemporal area (Figure 1)...
June 2016: Acta Dermatovenerologica Croatica: ADC
Daška Štulhofer Buzina, Ivana Martinac, Daniela Ledić Drvar, Romana Čeović, Ivan Bilić, Branka Marinović
Dear Editor, Inhibition of the epidermal growth factor receptor (EGFR) is a new strategy in treatment of a variety of solid tumors, such as colorectal carcinoma, non-small cell lung cancer, squamous cell carcinoma of the head and neck, and pancreatic cancer (1). Cetuximab is a chimeric human-murine monoclonal antibody against EGFR. Cutaneous side effects are the most common adverse reactions occurring during epidermal growth factor receptor inhibitors (EGFRI) therapy. Papulopustular rash (acne like rash) develop with 80-86% patients receiving cetuximab, while xerosis, eczema, fissures, teleangiectasiae, hyperpigmentations, and nail and hair changes occur less frequently (2)...
April 2016: Acta Dermatovenerologica Croatica: ADC
Anneke I den Hollander
The genomic revolution has had a huge impact on our understanding of the genetic defects and disease mechanisms underlying ophthalmic diseases. Two examples are discussed here. The first is Leber congenital amaurosis (LCA), a severe inherited retinal dystrophy leading to severe vision loss in children, and the second is age-related macular degeneration (AMD), the most common cause of vision loss in the elderly. Twenty years ago, the genetic causes of these diseases were unknown. Currently, more than 20 LCA genes have been identified, and genetic testing can now successfully identify the genetic defects in at least 75% of all LCA cases...
March 2016: Investigative Ophthalmology & Visual Science
Marni J Falk, Alan Decherney, Jeffrey P Kahn
Mitochondrial DNA (mtDNA) diseases may be the poster child for highly targeted, "personalized" medicine. These heterogeneous disorders, although rare individually, have well-defined genetic causes — more than 400 known pathogenic mutations or deletions in the 16,569-base-pair mitochondrial..
March 24, 2016: New England Journal of Medicine
Xing Wan, Han Pei, Min-jian Zhao, Shuo Yang, Wei-kun Hu, Heng He, Si-qi Ma, Ge Zhang, Xiao-yan Dong, Chen Chen, Dao-wen Wang, Bin Li
Leber's hereditary optic neuropathy (LHON) is a mitochondrially inherited disease leading to blindness. A mitochondrial DNA point mutation at the 11778 nucleotide site of the NADH dehydrogenase subunit 4 (ND4) gene is the most common cause. The aim of this study was to evaluate the efficacy and safety of a recombinant adeno-associated virus 2 (AAV2) carrying ND4 (rAAV2-ND4) in LHON patients carrying the G11778A mutation. Nine patients were administered rAAV2-ND4 by intravitreal injection to one eye and then followed for 9 months...
February 19, 2016: Scientific Reports
Slawomir J Teper, Anna Nowinska, Jaroslaw Pilat, Edward Wylegala
BACKGROUND: Treatment of neovascular age-related macular degeneration (nAMD) remains a major challenge in ophthalmology. It is essential to determine which of VEGF inhibition non-responders can benefit from photodynamic therapy (PDT). As AMD is strongly related to gene polymorphisms, genetic factors can modify efficacy of treatment. Swept-source optical coherence tomography (SS-OCT) gives exceptional insight into the retina and choroid. SS-OCT usefulness needs to be evaluated in nAMD patients...
March 2016: Photodiagnosis and Photodynamic Therapy
A C Martins, A M Rosa, E Costa, C Tavares, M J Quadrado, J N Murta
PURPOSE: This paper aims to review the morphological and functional characteristics of patients affected by familial amyloid polyneuropathy (FAP), with greater focus on type I and its progression after liver transplantation. We also analyse therapeutic options for the ophthalmic manifestations. METHODS: The literature from 2002 through 2015 was reviewed, with a total of 45 articles studied, using the key terms related to amyloidosis and its therapeutic approaches...
2015: BioMed Research International
Yao Li, Lawrence Chan, Huy V Nguyen, Stephen H Tsang
Interest in generating human induced pluripotent stem (iPS) cells for stem cell modeling of diseases has overtaken that of patient-specific human embryonic stem cells due to the ethical, technical, and political concerns associated with the latter. In ophthalmology, researchers are currently using iPS cells to explore various applications, including: (1) modeling of retinal diseases using patient-specific iPS cells; (2) autologous transplantation of differentiated retinal cells that undergo gene correction at the iPS cell stage via gene editing tools (e...
2016: Advances in Experimental Medicine and Biology
M P Kirpichnikov, M A Ostrovskiy
This is a review of the current state of optogenetics-based research in the field of ophthalmology and physiology of vision. Optogenetics employs an interdisciplinary approach that amalgamates gene engineering, optics, and physiology. It involves exogenous expression of a light-activated protein in a very particular retinal cell enabling regulation (stimulation vs. inhibition) of its physiological activity. The experience with gene therapy came in very useful for optogenetics. However, unlike gene therapy, which is aimed at repairing damaged genes or replacing them with healthy ones, optogenetics is focused on protein genes delivery for further molecular control of the cell...
May 2015: Vestnik Oftalmologii
Óscar Francisco Chacón-Camacho, Aline Astorga-Carballo, Juan Carlos Zenteno
Gene therapy is a promising new therapeutic strategy that could provide a novel and more effective way of targeting hereditary ophthalmological diseases. The eye is easily accessible, highly compartmentalized, and an immune-privileged organ that gives advantages as an ideal gene therapy target. Recently, important advances in the availability of various intraocular vector delivery routes and viral vectors that are able to efficiently transduce specific ocular cell types have been described. Gene therapy has advanced in some retinal inherited dystrophies; in this way, preliminary success is now being reported for the treatment of Leber congenital amaurosis (LCA)...
July 2015: Gaceta Médica de México
Sung Wook Park, Jin Hyoung Kim, Woo Jin Park, Jeong Hun Kim
The eye is a small and enclosed organ which makes it an ideal target for gene therapy. Recently various strategies have been applied to gene therapy in retinopathies using non-viral and viral gene delivery to the retina and retinal pigment epithelium (RPE). Subretinal injection is the best approach to deliver viral vectors directly to RPE cells. Before the clinical trial of a gene therapy, it is inevitable to validate the efficacy of the therapy in animal models of various retinopathies. Thus, subretinal injection in mice becomes a fundamental technique for an ocular gene therapy...
2015: Journal of Visualized Experiments: JoVE
Georgia Avgitidou, Sebastian Siebelmann, Bjoern Bachmann, Juergen Kohlhase, Ludwig M Heindl, Claus Cursiefen
A 3-year-old boy presented with acute corneal hydrops on the left eye and spontaneous corneal rupture on the right eye. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis. A novel mutation, the homozygous variant c.17T>G, p.V6G, was found in the gene for PR-domain-containing protein 5 (PRDM5) in exon 1. Brittle cornea syndrome is a rare connective tissue disease with typical ocular, auditory, musculoskeletal, and cutaneous disorders. Almost all patients suffer from declined vision due to corneal scarring, thinning, and rupture...
2015: Case Reports in Ophthalmological Medicine
Jing-Xue Zhang, Ning-Li Wang, Qing-Jun Lu
Retinal degenerative diseases pose a serious threat to eye health, but there is currently no effective treatment available. Recent years have witnessed rapid development of several cutting-edge technologies, such as gene therapy, stem cell therapy, and tissue engineering. Due to the special features of ocular structure, some of these technologies have been translated into ophthalmological clinic practice with fruitful achievements, setting a good example for other fields. This paper reviews the development of the gene and stem cell therapies in ophthalmology...
2015: International Journal of Ophthalmology
Neelakshi Bhagat, Marco Zarbin
PURPOSE: To summarize major innovations in retinal disease management during fiscal year 2014. DESIGN: Literature review. METHODS: A subset of papers published in the peer-reviewed literature were selected. RESULTS: Major innovations in retina include: (1) advances in the treatment of diabetic macular edema, including the use of aflibercept and sustained delivery dexamethasone intravitreal implants as well as subthreshold micropulse diode laser therapy; (2) reduced progression of age-related macular degeneration (AMD) using zinc, vitamin C, vitamin E, lutein, and zeaxanthin supplements as reported in the Age-Related Eye Disease Study-2; (3) use of enhanced-depth imaging optical coherence tomography for choroidal imaging; (4) use of gene therapy to treat choroideremia; (5) use of combination pharmacotherapy (i...
May 2015: Asia-Pacific Journal of Ophthalmology
Marcella Nebbioso, Giuseppe Buomprisco, Antonia Pascarella, Nicola Pescosolido
Many studies have shown that the presence of 1,25-dihydroxyvitamin D3 in the eye is able to modulate inflammatory responses. In fact, it has been demonstrated that topical administration of vitamin D3 inhibits Langerhans cells migration from the central cornea, corneal neovascularization, and production of cytokines (i.e. interleukin-1-6-8) in experimental animals. Moreover, both in vitro and in vivo studies have demonstrated that vitamin D is a potent inhibitor of retinal neovascularization. It has been shown that calcitriol, the biologically active form of vitamin D, inhibits angiogenesis both in cultured endothelial cells and in retinas from guinea pigs with retinoblastoma or oxygen-induced ischemic retinopathy...
June 9, 2015: Critical Reviews in Food Science and Nutrition
Hongpan Xu, Zhiyang Li, Jin Si
With its rapid development in the past few decades, gene therapy has shown potential for use as a standard clinical intervention for the treatment of several conditions, including cancers, infectious diseases, cardiovascular disorders, inner ear disorders, dermatological, ophthalmologic, and neurological pathologies. Current gene therapy is not limited to the delivery of DNA only. Other therapeutic nucleic acid materials such as small interfering RNA, antisense oligonucleotides, or microRNA have also been included into the protocols of gene therapy...
December 2014: Journal of Biomedical Nanotechnology
Cynthia Yu-Wai-Man, Peng Tee Khaw
Ocular fibrosis leads to significant visual impairment and blindness in millions of people worldwide, and is one of the largest areas of unmet need in clinical ophthalmology. The antimetabolites, mitomycin C and 5-fluorouracil, are the current gold standards used primarily to prevent fibrosis after glaucoma surgery, but have potentially blinding complications like tissue damage, breakdown and infection. This review thus focuses on the development of new classes of small molecule therapeutics to prevent post-surgical fibrosis in the eye, especially in the context of glaucoma filtration surgery...
February 2015: Expert Review of Ophthalmology
Alexander I Chernyavsky, Valentin Galitovskiy, Sergei A Grando
Corneal epithelial erosion is one of the most common problems in clinical ophthalmology. Despite significant progress in understanding how the cornea heals, clinically available pharmacological therapies that can promote repair and prevent visual complications remain limited. We have recently demonstrated that the acetylcholine (ACh) axis of corneal epithelium plays an important role in regulation and coordination of distinct activities of corneal epithelial cells (CEC) mediating re-epithelialization, but mechanisms remained unclear...
November 2015: International Immunopharmacology
Luigi Aloe, Maria Luisa Rocco
It has been shown that topical nerve growth factor (NGF) administration induces healing action on human cutaneous, corneal and pressure ulcers, glaucoma, maculopathy and retinitis pigmentosa suggesting a therapeutic potential of NGF in human ophthalmology and cutaneous ulcers. A similar therapeutic suggestion has emerged for the NGF gene therapy of Alzheimer's disease and ischemic heart injury. Moreover, over the last few years, the role and biological properties of NGF have also been investigated with transgenic mice over-expressing and down-expressing NGF...
2015: Annali Dell'Istituto Superiore di Sanità
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