Current perspectives in Bietti crystalline dystrophy

GP García-García,1 M Martínez-Rubio,1 MA Moya-Moya,1 JJ Pérez-Santonja,1 J Escribano2,31Department of Ophthalmology, General University Hospital of Alicante, Alicante 03010, Spain; 2Cooperative Research Network on Ophthalmology (OftaRed), Visual and Life Q...

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Autores principales:	García-García GP, Martínez-Rubio M, Moya-Moya MA, Pérez-Santonja JJ, Escribano J
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2019
Materias:	Bietti crystalline dystrophy CYP4V2 gene corneal deposits retinal deposits. Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/88999669c742478e94951beebaa04277
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spelling	oai:doaj.org-article:88999669c742478e94951beebaa042772021-12-02T06:30:20ZCurrent perspectives in Bietti crystalline dystrophy1177-5483https://doaj.org/article/88999669c742478e94951beebaa042772019-07-01T00:00:00Zhttps://www.dovepress.com/current-perspectives-in-bietti-crystalline-dystrophy-peer-reviewed-article-OPTHhttps://doaj.org/toc/1177-5483GP García-García,1 M Martínez-Rubio,1 MA Moya-Moya,1 JJ Pérez-Santonja,1 J Escribano2,31Department of Ophthalmology, General University Hospital of Alicante, Alicante 03010, Spain; 2Cooperative Research Network on Ophthalmology (OftaRed), Visual and Life Quality, Instituto de Salud Carlos III, Madrid, Spain; 3Laboratory of Human Molecular Genetics, Medicine Faculty/Research Institute on Neurological Disabilities (IDINE), University of Castilla La-Mancha, Albacete 02006, SpainAbstract: Bietti crystalline dystrophy (BCD) is a rare-inherited disease caused by mutations in the CYP4V2 gene and characterized by the presence of multiple shimmering yellow-white deposits in the posterior pole of the retina in association with atrophy of the retinal pigment epithelium (RPE) and chorioretinal atrophy. The additional presence of glittering dots located at the corneal limbus is also a frequent finding. The CYP4V2 protein belongs to the cytochrome P450 subfamily 4 and is mainly expressed in the retina and the RPE and less expressed in the cornea. The disease has its metabolic origin in the diminished transformation of fatty acid substrates into n-3 polyunsaturated fatty acids due to a dysregulation of the lipid metabolism. In this review, we provide updated insights on clinical and molecular characteristics of BCD including underlying mechanisms of BCD, genetic diagnosis, progress in the identification of causative genetic and epigenetic factors, available techniques of exploration and development of novel therapies. This information will help clinicians to improve accuracy of BCD diagnosis, providing the patient reliable information regarding prognosis and clinical prediction of the disease course.Keywords: Bietti crystalline dystrophy, CYP4V2 gene, corneal deposits, retinal depositsGarcía-García GPMartínez-Rubio MMoya-Moya MAPérez-Santonja JJEscribano JDove Medical PressarticleBietti crystalline dystrophyCYP4V2 genecorneal depositsretinal deposits.OphthalmologyRE1-994ENClinical Ophthalmology, Vol Volume 13, Pp 1379-1399 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Bietti crystalline dystrophy CYP4V2 gene corneal deposits retinal deposits. Ophthalmology RE1-994
spellingShingle	Bietti crystalline dystrophy CYP4V2 gene corneal deposits retinal deposits. Ophthalmology RE1-994 García-García GP Martínez-Rubio M Moya-Moya MA Pérez-Santonja JJ Escribano J Current perspectives in Bietti crystalline dystrophy
description	GP García-García,1 M Martínez-Rubio,1 MA Moya-Moya,1 JJ Pérez-Santonja,1 J Escribano2,31Department of Ophthalmology, General University Hospital of Alicante, Alicante 03010, Spain; 2Cooperative Research Network on Ophthalmology (OftaRed), Visual and Life Quality, Instituto de Salud Carlos III, Madrid, Spain; 3Laboratory of Human Molecular Genetics, Medicine Faculty/Research Institute on Neurological Disabilities (IDINE), University of Castilla La-Mancha, Albacete 02006, SpainAbstract: Bietti crystalline dystrophy (BCD) is a rare-inherited disease caused by mutations in the CYP4V2 gene and characterized by the presence of multiple shimmering yellow-white deposits in the posterior pole of the retina in association with atrophy of the retinal pigment epithelium (RPE) and chorioretinal atrophy. The additional presence of glittering dots located at the corneal limbus is also a frequent finding. The CYP4V2 protein belongs to the cytochrome P450 subfamily 4 and is mainly expressed in the retina and the RPE and less expressed in the cornea. The disease has its metabolic origin in the diminished transformation of fatty acid substrates into n-3 polyunsaturated fatty acids due to a dysregulation of the lipid metabolism. In this review, we provide updated insights on clinical and molecular characteristics of BCD including underlying mechanisms of BCD, genetic diagnosis, progress in the identification of causative genetic and epigenetic factors, available techniques of exploration and development of novel therapies. This information will help clinicians to improve accuracy of BCD diagnosis, providing the patient reliable information regarding prognosis and clinical prediction of the disease course.Keywords: Bietti crystalline dystrophy, CYP4V2 gene, corneal deposits, retinal deposits
format	article
author	García-García GP Martínez-Rubio M Moya-Moya MA Pérez-Santonja JJ Escribano J
author_facet	García-García GP Martínez-Rubio M Moya-Moya MA Pérez-Santonja JJ Escribano J
author_sort	García-García GP
title	Current perspectives in Bietti crystalline dystrophy
title_short	Current perspectives in Bietti crystalline dystrophy
title_full	Current perspectives in Bietti crystalline dystrophy
title_fullStr	Current perspectives in Bietti crystalline dystrophy
title_full_unstemmed	Current perspectives in Bietti crystalline dystrophy
title_sort	current perspectives in bietti crystalline dystrophy
publisher	Dove Medical Press
publishDate	2019
url	https://doaj.org/article/88999669c742478e94951beebaa04277
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Current perspectives in Bietti crystalline dystrophy

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