Relevant bibliographies by topics / Gyrate atrophy of the choroid and retina

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Gyrate atrophy of the choroid and retina'

Author: Grafiati
Published: 9 March 2023

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Journal articles on the topic "Gyrate atrophy of the choroid and retina"

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Kaiser-Kupfer, Muriel I., Irene H. Ludwig, Francisco M. de Monasterio, David Valle, and Ingeborg Krieger. "Gyrate Atrophy of the Choroid and Retina." Ophthalmology 92, no. 3 (March 1985): 394–401. http://dx.doi.org/10.1016/s0161-6420(85)34022-8.

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Vannas-Sulonen, Kaarina, Ilkka Sipilä, Antti Vannas, Olli Simell, and Juhani Rapola. "Gyrate Atrophy of the Choroid and Retina." Ophthalmology 92, no. 12 (December 1985): 1719–27. http://dx.doi.org/10.1016/s0161-6420(85)34098-8.

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Vannas-Sulonen, Kaarina, Olli Simell, and Ilkka Sipilä. "Gyrate Atrophy of the Choroid and Retina." Ophthalmology 94, no. 11 (November 1987): 1428–33. http://dx.doi.org/10.1016/s0161-6420(87)33269-5.

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Kaiser-Kupfer, Muriel I. "Gyrate Atrophy of the Choroid and Retina." Archives of Ophthalmology 109, no. 11 (November 1, 1991): 1539. http://dx.doi.org/10.1001/archopht.1991.01080110075039.

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Kaiser-Kupfer, Muriel I. "Gyrate Atrophy of the Choroid and Retina." Archives of Ophthalmology 120, no. 2 (February 1, 2002): 146. http://dx.doi.org/10.1001/archopht.120.2.146.

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Jena, Soumya, Koushik Tripathy, Rohan Chawla, and Ahmad M. Mansour. "Ultrawide field imaging to document the progression of gyrate atrophy of the choroid and retina over 5 years." BMJ Case Reports 14, no. 8 (August 2021): e244695. http://dx.doi.org/10.1136/bcr-2021-244695.

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A family of three siblings affected with gyrate atrophy of the choroid and retina is presented. Ultrawide field fundus imaging was used to monitor the progression of the disease objectively over 5 years.
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Vannas-Sulonen, Kaarina. "Progression of gyrate atrophy of the choroid and retina." Acta Ophthalmologica 65, no. 1 (May 27, 2009): 101–9. http://dx.doi.org/10.1111/j.1755-3768.1987.tb08499.x.

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Berbel, Rodrigo Fabri, Paulo Igor Rauen, Raphael Frangiote Pallone, and Antônio Marcelo Barbante Casella. "Retinal detachment and gyrate atrophy of the choroid and retina: case report." Arquivos Brasileiros de Oftalmologia 75, no. 1 (February 2012): 59–60. http://dx.doi.org/10.1590/s0004-27492012000100012.

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Abeshi, Andi, Francesca Fanelli, Tommaso Beccari, Munis Dundar, Falsini Benedetto, and Matteo Bertelli. "Genetic testing for gyrate atrophy of the choroid and retina." EuroBiotech Journal 1, s1 (October 27, 2017): 54–56. http://dx.doi.org/10.24190/issn2564-615x/2017/s1.17.

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Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for gyrate atrophy of the choroid and retina (GACR). GACR is inherited in an autosomal recessive manner, and has a prevalence of 1/50000 in Finland. In the international literature there are approximately 200 biochemically confirmed cases. GACR is caused by mutations in the OAT gene. Clinical diagnosis involves ophthalmological examination, electrophysiological testing (electroretinography - ERG), coherence tomography and assay of ornithine levels in body fluids. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.
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G, Satyavathi, Srinivas Y, and Malleswari Malleswari. "A CASE OF GYRATE ATROPHY OF THE CHOROID & RETINA." Journal of Evolution of Medical and Dental Sciences 4, no. 06 (January 19, 2015): 1059–62. http://dx.doi.org/10.14260/jemds/2015/148.

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Dissertations / Theses on the topic "Gyrate atrophy of the choroid and retina"

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DELL'AQUILA, FABIO. "GENE THERAPY FOR GYRATE ATROPHY OF CHOROID AND RETINA AND FOR USH1B RETINITIS PIGMENTOSA." Doctoral thesis, Università degli Studi di Milano, 2021. http://hdl.handle.net/2434/884458.

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Inherited Retinal Diseases (IRDs) represent a major cause of blindness worldwide. Adeno-associated viral (AAV) vector-based gene therapies represent the most promising treatments. We aimed to develop gene therapies for gyrate atrophy of the choroid and retina (GA) and Usher syndrome type 1B (USH1B) retinitis pigmentosa. GA is characterized by ornithine aminotransferase [OAT, coding sequence (CDS) ∽1.3 Kb] deficiency. We demonstrated in vitro expression and activity of 3XFlag-tagged human OAT (hOAT-3XFlag). AAV vector carrying the hOAT-3XFlag expression cassette improved the structural retinal defects in the Oat-/- mouse model of GA. Bi-allelic mutations in the Myosin7A gene (MYO7A) (CDS ∽6.7 Kb) cause USH1B, the most common combination of inherited congenital deafness and blindness. We demonstrated effective delivery and expression of MYO7A in mice and pigs using dual AAV vectors. During AAV manufacturing, we found a contaminant vector resulting from recombination between two homologous sequences in the AAV vector containing the 5’ half of hMYO7A. This was removed by changing one of the two sequences while maintaining the same MYO7A expression levels in vivo. We selected three therapeutic doses of dual AAV-hMYO7A that rescue retinal defects in shaker-1 mice, a mouse model of USH1B. These doses will be translated in patients with USH1B. In the same mouse model, we confirmed biological potency of dual AAV-hMYO7A that will be used in the clinical trial. Overall, these studies offer promising results, paving the way for a gene therapy of GA and for the clinical translation of dual AAV vectors in USH1B subjects.
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Books on the topic "Gyrate atrophy of the choroid and retina"

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Hull, Sarah, and Andrew R. Webster. Ophthalmic Manifestations of Inherited Metabolic Diseases. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0075.

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Systemic metabolic disorders can manifest in the cornea, lens, or retina with or without affecting vision. In some conditions findings are present from birth, and in others ophthalmic complications develop as the disease progresses. In some conditions in adults (for instance pseudoxanthoma elasticum (PXE), Wilson disease, Fabry and gyrate atrophy) ocular findings are pathognomic and should lead to targeted investigations such as sequencing of ABCC6 in PXE and serum ornithine levels in gyrate atrophy. Early diagnosis and treatment may improve visual outcomes. This chapter will focus on the key conditions in adults that have distinct presentations in the eye.
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Book chapters on the topic "Gyrate atrophy of the choroid and retina"

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Timson, David J., Richard J. Reece, James B. Thoden, Hazel M. Holden, Andrea L. Utz, Beverly M. K. Biller, Eugen-Matthias Strehle, et al. "Gyrate Atrophy of the Choroid and Retina." In Encyclopedia of Molecular Mechanisms of Disease, 765–66. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_733.

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Theisler, Charles. "Gyrate Atrophy of the Choroid and Retina." In Adjuvant Medical Care, 148–49. New York: CRC Press, 2022. http://dx.doi.org/10.1201/b22898-163.

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Fois, A., P. Borgogni, M. Cioni, G. M. S. Mancini, M. Molinelli, M. Pizzetti, A. M. Bardelli, et al. "Gyrate Atrophy of the Choroid and Retina: 3 Cases in One Italian Family." In Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia, 272–74. Dordrecht: Springer Netherlands, 1986. http://dx.doi.org/10.1007/978-94-009-4131-1_45.

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Stepien, Kimberly E. "Choroid, Gyrate Atrophy of." In Encyclopedia of Ophthalmology, 1–2. Berlin, Heidelberg: Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/978-3-642-35951-4_73-4.

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Stepien, Kimberly E. "Choroid, Gyrate Atrophy of." In Encyclopedia of Ophthalmology, 399–400. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-540-69000-9_73.

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"Gyrate Atrophy of the Choroid and Retina." In Encyclopedia of Ophthalmology, 836. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-540-69000-9_100754.

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"Gyrate Atrophy of the Retina and Choroid." In Encyclopedia of Ophthalmology, 836. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-540-69000-9_100755.

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"Gyrate Atrophy of the Choroid and Retina." In Principles and Practice of Clinical Electrophysiology of Vision. The MIT Press, 2006. http://dx.doi.org/10.7551/mitpress/5557.003.0080.

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Atchaneeyasakul, La-ongsri, and Richard G. Weleber. "GYRATE ATROPHY OF THE CHOROID AND RETINA WITH HYPERORNITHINEMIA 363.57 (Ornithine-Δ-Aminotransferase Deficiency)." In Roy and Fraunfelder's Current Ocular Therapy, 625–26. Elsevier, 2008. http://dx.doi.org/10.1016/b978-1-4160-2447-7.50341-8.

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"Digestive, Ear/Nose/Throat, and Eye Disorders." In Examining the Causal Relationship Between Genes, Epigenetics, and Human Health, 361–98. IGI Global, 2019. http://dx.doi.org/10.4018/978-1-5225-8066-9.ch015.

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The digestive system includes the structures and organs involved in processing of foods required for growth, development, maintenance, and body repair. Most diseases affecting this system are due to infections from bacteria, viruses, protozoa, and fungi, while others are hereditary. The ear, nose, and throat (ENT) system is a complex set of structures sharing slightly interrelated mechanisms of operation. While some disorders of the ENT are hereditary, environmental influences play a big role. Diseases that affect eyesight primarily centre on three layers of the eye (sclera, choroid, and retina) which make eyesight possible. Disorders of metabolism occur when a crucial enzyme is disabled, or if a control mechanism for a metabolic pathway is affected. The chapter focuses on 14 diseases with suspected genetic causes including cystic fibrosis, diabetes, glucose-galactose malabsorption, hemochromatosis, obesity, Wilson's Disease, Zellweger syndrome, deafness, Pendred syndrome, Best Disease, glaucoma, gyrate atrophy, male pattern baldness, and Alport syndrome.
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Conference papers on the topic "Gyrate atrophy of the choroid and retina"

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Caruso, Rafael C., Muriel I. Kaiser-Kupfer, Malina A. Drews-Bankiewicz, and David L. Valle. "Measurements of the Stiles-Crawford Effect and of Increment Thresholds in Patients with Gyrate Atrophy of the Choroid and Retina." In Ophthalmic and Visual Optics. Washington, D.C.: Optica Publishing Group, 1993. http://dx.doi.org/10.1364/ovo.1993.osaa.4.

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As the Stiles-Crawford (S-C) effect of the first kind depends on the directional sensitivity of photoreceptors, it can be used in clinical research to identify and quantify photoreceptor involvement in retinal diseases. In this report, we describe abnormalities of foveal cone directional sensitivity and foveal cone thresholds in patients with gyrate atrophy of the choroid and retina (GA).
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You might also be interested in the extended bibliographies on the topic 'Gyrate atrophy of the choroid and retina' for particular source types:
Journal articles
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