Alport Syndrome With Wheel-like Bilateral Macular Holes: A Case Report and Literature Review

Macular hole, a rare but vision-threatening complication in Alport syndrome, presents unique therapeutic challenges. Although the ocular manifestations of Alport syndrome, such as anterior lenticonus and retinal flecks, have been well documented for decades, the progressive nature of the associated vitreoretinopathy has historically limited the ability of clinicians to prevent irreversible visual deterioration. A 39-year-old woman with genetically confirmed Alport syndrome presented with a 2-month history of progressive bilateral blurred vision. Multimodal ophthalmic imaging revealed wheel-like retinal changes accompanied by full-thickness foveal defects in both eyes. Pars plana vitrectomy combined with amniotic membrane transplantation was performed on the left eye. At 5-month follow-up, the visual acuity of the left eye remained 6/20, consistent with the preoperative best-corrected visual acuity of the same eye. Optical coherence tomography confirmed complete closure of the left macular hole. Pars plana vitrectomy combined with human amniotic membrane transplantation represents a promising therapeutic strategy for the management of macular holes in patients with Alport syndrome.