A Case Report of Temporal Macular Thinning Associated with Alport Syndrome

Purpose: To report a case of severe of severe temporal macular thinning in a patient with Alport syndrome. Bilateral temporal thinning is rarely associated with any other systemic conditions, so it is important that ophthalmologists be aware of the significance of this finding and refer for further internal medicine evaluation appropriately. Methods: Clinical examination and multimodal imaging are provided from a clinic visit one month after inpatient treatment for a hypertensive crisis associated with renal failure. Results: The 19-year-old patient had resolving hypertensive retinopathy. High-resolution optical coherence tomography (OCT) confirmed that he had temporal thinning indices (TTIs) consistent with his underlying clinical diagnosis of Alport syndrome. Conclusion: This case report emphasizes the important role of OCT as a commonly available noninvasive retinal imaging modality that can readily demonstrate the temporal macular thinning that is characteristic of Alport syndrome and just a few other conditions. OCT can be an attractive alternative to the much more invasive renal biopsy testing for Alport syndrome when genetic testing is ambiguous or when renal biopsy is considered too risky for the patient.