A 17-Year-Old With an Abnormal Optic Disc

Rod Foroozan, MD


November 16, 2016

Case Diagnosis

Intravenous fluorescein angiography showed leakage involving the superior and inferior nasal branches of the retinal arterioles of the left eye. This was suggestive of retinal vasculitis. In association with retinal vasculitis, inflammation involving the optic nerve is the most likely cause of optic disc whitening in this pattern.

A congenital optic disc anomaly could be considered because this patient was asymptomatic. Congenital optic disc anomalies include optic disc hypoplasia, characterized by a small optic disc, and morning glory optic disc anomaly, characterized by a central glial tuft, radial array of the retinal blood vessels emanating from the optic disc, and a parapapillary pigmented area. This patient's optic discs were normal in size. Also, congenital optic disc anomaly should have no associated overlying optic disc whitening and no evidence of retinal vasculitis.

NAION typically occurs in patients who have small optic discs with small cups. NAION occurs in the absence of systemic symptoms and more commonly in patients aged 50 years or older. Optic disc edema must be present in the acute phase for there to be symptomatic vision loss. This patient's optic disc cup was small in both eyes; however, there was associated retinal vasculitis, which should not occur in NAION.

The overlying disc whitening in this patient was not suggestive of retinoblastoma, with no evidence of calcification and no associated feeding arteriole or draining vein.

Clinical Course

MRI of the brain and orbits showed no enhancement in the area of the left optic nerve head. There were no white-matter lesions and normal meninges.

Blood tests for syphilis, tuberculosis, systemic lupus erythematosus, complete blood count, and erythrocyte sedimentation rate were normal. The angiotensin-converting enzyme (ACE) level was elevated, at 129 U/L (normal range is up to 120 U/L).

CT of the chest showed multiple enlarged hilar lymph nodes and areas suggestive of granulomas in the lungs, more so in the upper lobes. The patient was seen by a pulmonologist, and bronchoscopy with biopsy revealed noncaseating granulomas suggestive of sarcoidosis.

On his return to the eye clinic 2 weeks later, the clinical findings were similar. However, vitreous cells were noted in the left eye. He was started on 60 mg of prednisone per day and was instructed to return in 1 month to reassess the ocular findings.


Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.
Post as: