Related Experiment Video
Updated: Apr 6, 2026
Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration
Published on: May 26, 2023
MACULAR HOLES, VITELLIFORM LESIONS, AND MIDPERIPHERAL RETINOSCHISIS IN ALPORT SYNDROME
Akshay S Thomas1, Justin T Baynham, Christina J Flaxel
1Casey Eye Institute, Oregon Health and Sciences University, Portland, Oregon.
Purpose:
To describe the retinal findings in two cases of Alport syndrome.
Methods:
Observational case series. The clinical findings of the two patients were documented with color fundus photography and high resolution spectral domain optical coherence tomography.
Results:
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.
Conclusion:
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.
