Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome

David J Jacobs,1 Julia Sein,1 Audina M Berrocal,1 Alana L Grajewski,1,2 Elizabeth Hodapp11Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, 2Department of Ophthalmology, University of Minnesota, Minneapolis, MN, USAAbstract: The purpo...

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Autores principales:	Jacobs DJ, Sein J, Berrocal AM, Grajewski AL, Hodapp E
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2012
Materias:	Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/eba89396364441788196ff1392dc5ebf
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spelling	oai:doaj.org-article:eba89396364441788196ff1392dc5ebf2021-12-02T02:15:34ZFluorescein angiography findings in a case of Rubinstein-Taybi syndrome1177-54671177-5483https://doaj.org/article/eba89396364441788196ff1392dc5ebf2012-08-01T00:00:00Zhttp://www.dovepress.com/fluorescein-angiography-findings-in-a-case-of-rubinstein-taybi-syndrom-a10772https://doaj.org/toc/1177-5467https://doaj.org/toc/1177-5483David J Jacobs,1 Julia Sein,1 Audina M Berrocal,1 Alana L Grajewski,1,2 Elizabeth Hodapp11Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, 2Department of Ophthalmology, University of Minnesota, Minneapolis, MN, USAAbstract: The purpose of this report is to describe the fluorescein angiography findings in a case of Rubinstein-Taybi syndrome. Fundus photography and fluorescein angiography were performed on a 6-year-old male with Rubinstein-Taybi syndrome due to CREB binding protein gene mutation. Fundus photography showed glaucomatous cupping and diffusely attenuated retinal vasculature. Choroidal vasculature was prominent due to diffuse retinal atrophy with scattered focal retinal pigment epithelial changes. Fluorescein angiography showed retinal vascular attenuation, prolonged arteriovenous transit time with delayed venous filling, late small vessel leakage, and 360 degrees of peripheral avascularity. Peripheral retinal avascularity and retinal vascular inflammation evidenced by late small vessel leakage can be demonstrated by fluorescein angiography in the retinal dystrophy of Rubinstein-Taybi syndrome.Keywords: Rubinstein-Taybi syndrome, CREB binding protein, gene mutationJacobs DJSein JBerrocal AMGrajewski ALHodapp EDove Medical PressarticleOphthalmologyRE1-994ENClinical Ophthalmology, Vol 2012, Iss default, Pp 1369-1371 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Ophthalmology RE1-994
spellingShingle	Ophthalmology RE1-994 Jacobs DJ Sein J Berrocal AM Grajewski AL Hodapp E Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome
description	David J Jacobs,1 Julia Sein,1 Audina M Berrocal,1 Alana L Grajewski,1,2 Elizabeth Hodapp11Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, 2Department of Ophthalmology, University of Minnesota, Minneapolis, MN, USAAbstract: The purpose of this report is to describe the fluorescein angiography findings in a case of Rubinstein-Taybi syndrome. Fundus photography and fluorescein angiography were performed on a 6-year-old male with Rubinstein-Taybi syndrome due to CREB binding protein gene mutation. Fundus photography showed glaucomatous cupping and diffusely attenuated retinal vasculature. Choroidal vasculature was prominent due to diffuse retinal atrophy with scattered focal retinal pigment epithelial changes. Fluorescein angiography showed retinal vascular attenuation, prolonged arteriovenous transit time with delayed venous filling, late small vessel leakage, and 360 degrees of peripheral avascularity. Peripheral retinal avascularity and retinal vascular inflammation evidenced by late small vessel leakage can be demonstrated by fluorescein angiography in the retinal dystrophy of Rubinstein-Taybi syndrome.Keywords: Rubinstein-Taybi syndrome, CREB binding protein, gene mutation
format	article
author	Jacobs DJ Sein J Berrocal AM Grajewski AL Hodapp E
author_facet	Jacobs DJ Sein J Berrocal AM Grajewski AL Hodapp E
author_sort	Jacobs DJ
title	Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome
title_short	Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome
title_full	Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome
title_fullStr	Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome
title_full_unstemmed	Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome
title_sort	fluorescein angiography findings in a case of rubinstein-taybi syndrome
publisher	Dove Medical Press
publishDate	2012
url	https://doaj.org/article/eba89396364441788196ff1392dc5ebf
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Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome

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