PURPOSE: To describe the evolution of a giant macular hole in a patient with Alport syndrome and review the literature. METHODS: An observational case report is presented with serial clinical examination, visual acuity, fundus photographs, and ocular coherence tomography performed. RESULTS: A man with Alport syndrome and a giant macular hole in one eye developed multiple, small lamellar macular holes which coalesced into a giant full thickness macular hole in the contralateral eye. CONCLUSIONS: Giant macular holes may occur in Alport syndrome. The mechanism and clinical progression appear to differ from that of idiopathic macular holes and, is likely related to an abnormality in Type IV collagen in basement membrane of retinal Muller cells. Anomalous vitreoretinal adhesion may also play a role. Previous cases of giant macular holes in the literature may not have been properly associated with Alport syndrome.
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