Combined hamartoma of the retina and retinal pigment epithelium in branchio-otic syndrome.

Abstract

A 15-month-old boy with established branchio-otic syndrome was evaluated for decreased red reflex in the left eye. Fundus examination of left eye revealed a gray epiretinal membrane with retinal traction and ill-defined macular thickening, found on ultrasonography as a dense flat region 1.7 mm in thickness. Enhanced depth imaging optical coherence tomography revealed an epiretinal membrane with macular thickening, retinal folding, and full-thickness retinal disorganization, consistent with combined hamartoma of the retina and retinal pigment epithelium. Over 5 years of follow-up, the branchio-otic syndrome was unchanged and the combined hamartoma remained stable.

• Authors: Priyanka Kadaba, Sruthi Arepalli, Jerry A Shields, Carol L Shields
• Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus (J AAPOS) Vol. 18 Issue 2 Pg. 201-3 (Apr 2014) ISSN: 1528-3933 [Electronic] United States
• PMID: 24698626 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2014 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

Topics

• Branchio-Oto-Renal Syndrome (complications, diagnosis)
• Epiretinal Membrane (diagnosis)
• Fluorescein Angiography
• Hamartoma (diagnosis, etiology)
• Hearing Loss (diagnosis)
• Humans
• Infant
• Male
• Retinal Diseases (diagnosis, etiology)
• Retinal Pigment Epithelium (pathology)
• Tomography, Optical Coherence
• Visual Acuity (physiology)