Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome

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

Research output: Contribution to journalArticle

1 Citation (Scopus)

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

Fingerprint

Rubinstein-Taybi Syndrome
Fluorescein Angiography
Retinal Vessels
Photography
CREB-Binding Protein
Retinal Dystrophies
Retinal Pigments
Atrophy
Inflammation
Mutation
Genes

Keywords

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

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome. / Jacobs, David J.; Sein, Julia; Berrocal, Audina; Grajewski, Alana Lee; Hodapp, Elizabeth.

In: Clinical Ophthalmology, Vol. 6, No. 1, 21.08.2012, p. 1369-1371.

Research output: Contribution to journalArticle

Jacobs, David J. ; Sein, Julia ; Berrocal, Audina ; Grajewski, Alana Lee ; Hodapp, Elizabeth. / Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome. In: Clinical Ophthalmology. 2012 ; Vol. 6, No. 1. pp. 1369-1371.
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