A triad of retinal signs in Alport syndrome: The 'stair-case' fovea, choroidal thinning and peripheral schisis.

CONCLUSION: The stair-case foveal sign, choroidal thinning and mid-peripheral schisis are three signs that clinicians might expect to encounter on optical coherence tomography imaging of patients with Alport syndrome. These findings can be attributed to unique mutations of collagen IV which lead to a variety of clinical phenotypes affecting basement membrane structures. Identification of these features may not only be useful diagnostically and in forecasting complications such as macular holes, but also predict mode of inheritance and likelihood of early-onset renal failure. PMID: 30957516 [PubMed - as supplied by publisher]
Source: European Journal of Ophthalmology - Category: Opthalmology Authors: Tags: Eur J Ophthalmol Source Type: research