Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome

David J. Jacobs, Julia Sein, Audina M. Berrocal, Alana L. Grajewski, Elizabeth Hodapp

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)1369-1371
Number of pages3
JournalClinical Ophthalmology
Volume6
Issue number1
DOIs
StatePublished - Aug 21 2012
Externally publishedYes

Keywords

  • CREB binding protein
  • Gene mutation
  • Rubinstein-Taybi syndrome

ASJC Scopus subject areas

  • Ophthalmology

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  • Cite this

    Jacobs, D. J., Sein, J., Berrocal, A. M., Grajewski, A. L., & Hodapp, E. (2012). Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome. Clinical Ophthalmology, 6(1), 1369-1371. https://doi.org/10.2147/OPTH.S31023