a case of goldenhar syndrome associated with a new retinal presentation: exudative vitelliform maculopathy
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ID: 188543
2015
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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.
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bru2015casea
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| Authors | ;Claudia Bruè;Cesare Mariotti;Silvia Celani;Ilaria Rossiello;Alfonso Giovannini |
| Journal | hastings center report |
| Year | 2015 |
| DOI |
10.1155/2015/626027
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