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Last Month’s Blink

Alport Maculopathy

Written by Atalie C. Thompson, MD, MPH, Sharon Fekrat, MD, and Mays A. El-Dairi, MD. Photo by Michael P. Kelly, FOPS. All are at Duke Eye Center, Durham, N.C.

A 20-year-old woman with a history of sensorineural hearing loss, renal transplant for glo­merulonephritis, and myopia presented for a routine eye exam. Her BCVA was 20/20 in both eyes, and her anterior segment exam was unremark­able. The fundus exam was notable for mild elevation of both optic nerve heads without blurring of the disc margins, spontaneous venous pulsations, and subtle para­foveal flecks in the macula (Fig. 1). OCT demonstrated temporal macular thinning of the inner retinal layers in both eyes (Fig. 2), as well as hyperreflective material consistent with buried optic nerve head drusen (Fig. 3).

The patient’s clinical triad of glomerulone­phritis, hearing loss, and ocular pathology are consistent with Alport syndrome. Ocular man­ifestations can include anterior lenticonus with an “oil droplet” reflex, buried optic nerve head drusen, and dot-and-fleck retinopathy with or without Bull’s-eye maculopa­thy. Thinning of the internal limiting membrane (ILM), retinal nerve fiber layer, retinal pigment epithelium/basement membrane, and Bruch mem­brane presumably stems from dysfunction in the basement membrane due to type IV collagen mutations.

While patients with tem­poral macular thinning on OCT may have normal visual acuity, the thinned ILM can lead to an abnormal vitreoretinal interface that may precipitate the formation of giant macular holes. Thus, patients with Alport syndrome may benefit from annual evaluation by OCT imaging for develop­ment of macular holes and buried optic nerve head drusen.

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