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JAMA Ophthalmology Clinical Challenge
June 8, 2017

Bilateral Retinal Problem in a Patient With Alport Syndrome

Author Affiliations
  • 1The Retina Service of Wills Eye Hospital and Mid Atlantic Retina, Thomas Jefferson University, Philadelphia, Pennsylvania
JAMA Ophthalmol. Published online June 8, 2017. doi:10.1001/jamaophthalmol.2017.0036

A man in his late 20s with a history of Alport syndrome presented on referral for a bilateral retina problem after experiencing right-sided herpes zoster ophthalmicus. He denied risk factors for human immunodeficiency virus, and serologic testing results were negative. He had completed treatment for keratouveitis and reported some residual blurring of his vision in the right eye. His ocular history was unremarkable. His uncorrected visual acuity was 20/60 OD and 20/40 OS. Pupillary responses, confrontation visual fields, motility, external examination, and intraocular pressure were normal. Slitlamp examination revealed superficial keratitis and anterior stromal haze in the right eye but otherwise was normal. Fundus examination (Figure, A) revealed a poor foveal light reflex with an irregular-shaped area of red discoloration in the fovea and surrounding subtle flecking of the retina in both eyes. No other abnormalities were found on ophthalmoscopic examination. Spectral-domain optical coherence tomography (Figure, B) showed an irregular foveal contour with trace epiretinal membrane formation, with no evidence of foveoschisis or outer retinal changes. Fundus autofluorescence was normal.

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