To describe the retinal findings in two cases of Alport syndrome.
Observational case series. The clinical findings of the two patients were documented with color fundus photography and high resolution spectral domain optical coherence tomography.
Patient 1 was found to have fleck retinopathy in both eyes, inner retinal thinning in the right eye and a full-thickness macular hole in the left eye. Patient 2 was found to have a full-thickness macular hole in the right eye as well as retinoschisis in the temporal macula in the right eye. The left eye revealed inner retinal thinning involving the fovea, a vitelliform lesion of the temporal macula and midperipheral retinoschisis involving multiple retinal layers.
Retinal abnormalities including fleck retinopathy, retinal thinning, macular holes, retinoschisis, and vitelliform lesions are variably present in Alport syndrome. This is only the second report of a vitelliform lesion in a patient with Alport syndrome and the first report of midperipheral retinoschisis. The array of retinal findings is believed to reflect a dysfunctional Type IV collagen present in the internal limiting membrane and Bruch membrane.
Alport syndrome is a rare hereditary condition with variable retinal findings. The authors report two cases of Alport syndrome with both previously reported and novel retinal findings.
Casey Eye Institute, Oregon Health and Sciences University, Portland, Oregon.
Reprint requests: Christina J. Flaxel, MD, 3375 SW Terwilliger Boulevard, Portland, OR 97239; e-mail: email@example.com
Supported by unrestricted institutional grant from Research to Prevent Blindness, New York, NY.
Presented as a poster at Annual Scientific Meeting of The Retina Society, Philadelphia, PA, September 11–14, 2014.
None of the authors have any conflicting interests to disclose.