A 19-year-old man with Alport syndrome presented with diminution of vision in his
left eye. Slit-lamp biomicroscopy showed an early anterior lenticonus with an anterior
subcapsular cataract in his right eye (Fig. 1A) and a dense anterior polar and anterior subcapsular cataract in his left eye (Fig. 1B). Fundus photography revealed central perimacular dot-and-fleck retinopathy with
a dull macular reflex or lozenge in both eyes (Fig. 1C, 1D). The flecks were better visualized on red-free imaging as a ring of fine white
stippling around the macula (Fig. 1E, 1F). Bilateral temporal retinal thinning was present on optical coherence tomography
(Fig. 2A, 2B) with distortion and temporal enlargement of the foveal avascular zone of the superficial
retinal plexus on optical coherence tomography angiography (Fig. 2C, 2D). Ophthalmic imaging can provide a rapid, noninvasive, and relatively inexpensive
tool for diagnosis of Alport syndrome and also can help predict progression of renal
disease and mode of inheritance in certain situations.
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Publication history
Published online: July 26, 2021
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© 2021 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved.
