Characteristic ocular features in women with Alport syndrome.

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Presentation transcript:

Characteristic ocular features in women with Alport syndrome. Characteristic ocular features in women with Alport syndrome. (A) Corneal opacity (arrow) in a 60-year-old woman with X-linked Alport syndrome and an in-frame COL4A5 deletion, hearing loss, and normal renal function; and (B) higher powered view of the same abnormality. Her son had a renal transplant and had a similar corneal lesion. (C) Peripheral fleck retinopathy in a 75-year-old woman, with mild renal impairment and hearing loss; and (D) higher power view demonstrating a dappled appearance due to the coalescent fleck retinopathy (arrow). (E) Central fleck retinopathy in a 30-year-old female with a R373× in COL4A5, and normal renal function (arrow). This figure demonstrates how difficult it can be to distinguish the fleck retinopathy from the retinal sheen of youth; and (F) a higher power view of the central fleck retinopathy (arrow). Vision was not affected. (G) Optical coherence tomography demonstrating a sagittal section through the retina and subtle thinning of the temporal versus nasal quadrants, and (H) optical coherence tomography measurements demonstrating different thicknesses in the temporal versus nasal quadrants which was consistent with moderate temporal retinal thinning (7.4%) (24). Judy Savige et al. CJASN 2016;11:1713-1720 ©2016 by American Society of Nephrology