Purpose: To describe the optical coherence tomography (OCT) findings of the macular area in patients with Alport syndrome (AS), a disease caused by mutations in genes coding for type IV collagen (Col4), which is the main component of the internal limiting membrane (ILM).
Methods: We reviewed the files for six eyes of three patients with AS. All patients were evaluated by OCT throughout the macula.
Results: One patient had a giant macular hole surrounded by areas of loss of inner retinal tissue that had grown over time. The other two patients had focal zones of inner retinal thinning.
Conclusions: We postulate that the structural abnormalities of the ILM due to altered Col4 play a more important role in macular hole formation than hemodynamic alterations characteristic of AS. Several hypotheses could be expounded. Future OCT macular studies involving asymptomatic patients with AS would be useful in detecting and monitoring macular alterations. They would also contribute to a greater knowledge of this disease.