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 Hodapp1
1Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, 2Department of Ophthalmology, University of Minnesota, Minneapolis, MN, USA
Abstract: 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
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