A Case of Goldenhar Syndrome Associated with a New Retinal Presentation:
Exudative Vitelliform Maculopathy
#MMPMID26064736
Bruč C
; Mariotti C
; Celani S
; Rossiello I
; Giovannini A
Case Rep Ophthalmol Med
2015[]; 2015
(?): 626027
PMID26064736
show ga
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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