Abstract
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.
Original language | English (US) |
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Pages (from-to) | 109-111 |
Number of pages | 3 |
Journal | Retinal Cases and Brief Reports |
Volume | 10 |
Issue number | 2 |
DOIs | |
State | Published - 2016 |
Keywords
- Alport syndrome
- macular hole
- retinoschisis
- vitelliform lesion
ASJC Scopus subject areas
- Ophthalmology