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

Abstract EN

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.