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Case Reports in Ophthalmological Medicine
Volume 2015, Article ID 626027, 4 pages
Case Report

A Case of Goldenhar Syndrome Associated with a New Retinal Presentation: Exudative Vitelliform Maculopathy

Ophthalmology, Department of Neuroscience, Polytechnic University of Marche, 60039 Ancona, Italy

Received 11 March 2015; Accepted 23 April 2015

Academic Editor: Shigeki Machida

Copyright © 2015 Claudia Bruè et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Goldenhar syndrome is a rare clinical disturbance with a wide range of clinical manifestations. We report on a 6-year-old male with peculiar retinal presentation of Goldenhar syndrome. The patient was referred to Ophthalmology for central scotoma in the left eye, where visual acuity was 20/100. Fundus examination was unremarkable, except for yellowish material in the central macula. SD-OCT revealed interruption of the external limiting membrane and inner and outer segment junctions, with disorganized material in the vitelliform space and subretinal fluid. Six months later, fundus and SD-OCT examinations were unchanged without treatment, but visual acuity in the left eye had improved to 20/50. Five years later, he had similar clinical manifestations in the right eye. He was started on systemic steroids. After 15 days, his visual acuity improved to 20/20 and subretinal fluid and yellowish material in the vitelliform space disappeared. Goldenhar syndrome has variable presentation, including vitelliform maculopathy.