Ocular manifestations in a family with brachio-oculo-facial syndrome

Rosanna Martens; Linda A Cernichiaro Espinosa; Supalert Prakhunhungsit; Audina M Berrocal

doi:10.1016/j.jaapos.2019.01.007

Ocular manifestations in a family with brachio-oculo-facial syndrome

J AAPOS. 2019 Jun;23(3):180-182. doi: 10.1016/j.jaapos.2019.01.007. Epub 2019 Feb 27.

Authors

Rosanna Martens¹, Linda A Cernichiaro Espinosa¹, Supalert Prakhunhungsit², Audina M Berrocal³

Affiliations

¹ Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, Miami, Florida.
² Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, Miami, Florida; Ophthalmology Department, Faculty of Medicine, Siriraj Hospital, Mahidol University, Thailand.
³ Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, Miami, Florida. Electronic address: ABerrocal@med.miami.edu.

PMID: 30822509
DOI: 10.1016/j.jaapos.2019.01.007

Abstract

We report 3 siblings with brachio-oculo-facial syndrome (BOFS) who present with the predominant ocular phenotype. This syndrome has rarely been reported in multiple first-degree relatives.

Publication types

Case Reports

MeSH terms

Branchio-Oto-Renal Syndrome / diagnosis*
Branchio-Oto-Renal Syndrome / genetics
Child
Coloboma / diagnosis*
Coloboma / genetics
DNA / genetics*
DNA Mutational Analysis
Diagnosis, Differential
Female
Humans
Infant
Male
Mutation*
Optic Disk / pathology*
Transcription Factor AP-2 / genetics*
Transcription Factor AP-2 / metabolism

Substances

TFAP2A protein, human
Transcription Factor AP-2
DNA