title: A Case of Goldenhar Syndrome Associated with a New Retinal Presentation: Exudative Vitelliform Maculopathy.
abstract: 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.
authors.affiliation: Ophthalmology, Department of Neuroscience, Polytechnic University of Marche, 60039 Ancona, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Bruè
authors.affiliation: Ophthalmology, Department of Neuroscience, Polytechnic University of Marche, 60039 Ancona, Italy.
authors.forename: Cesare
authors.initials: C
authors.lastname: Mariotti
authors.affiliation: Ophthalmology, Department of Neuroscience, Polytechnic University of Marche, 60039 Ancona, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Celani
authors.affiliation: Ophthalmology, Department of Neuroscience, Polytechnic University of Marche, 60039 Ancona, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Rossiello
authors.affiliation: Ophthalmology, Department of Neuroscience, Polytechnic University of Marche, 60039 Ancona, Italy.
authors.forename: Alfonso
authors.initials: A
authors.lastname: Giovannini