A new case of giant macular hole in a patient with Alport syndrome

Background: Alport syndrome is a progressive inherited glomerulonephritis leading to renal failure, hearing loss and ocular changes.

Objective: To report the seventh case of giant macular hole in a patient with Alport syndrome, review the literature, and propose a pathophysiological mechanism.

Methods: The case of a man with a giant macular hole of the right eye is described with visual acuity, fundus photographs and spectral domain ocular coherence tomography.

Results: A 56-year-old man with Alport syndrome and giant macular hole (2291 μm × 2265 μm) in his right eye, reducing the visual acuity to 20/200, complained of progressive visual loss in his contralateral eye. Fundus examination of the left eye revealed a circular perimacular atrophy.

Conclusions: Giant macular holes are one possible retinal complication of Alport syndrome. Their pathogenesis differs from idiopathic macular holes and may result from the combination of collagen type IV abnormalities in the basement membranes of both Bruch's membrane and the internal limiting membrane, along with anomalous vitreo-retinal adhesion.