Multiple Vitelliform Lesions as a Retinal Manifestation of Alport Syndrome

Abstract

Alport syndrome is associated with various ocular phenotypic features, including several retinal manifestations. The purpose of this case report was to describe a case of multiple vitelliform lesions in Alport syndrome. This particular finding has, to our knowledge, not been reported previously. A 63-year-old man with known Alport syndrome presented with symptomatic, bilateral anterior lenticonus. Fundoscopic examination revealed multiple vitelliform lesions, which were symmetrically distributed at the posterior poles. Additional retinal findings included an irregular foveal contour and central macular thinning in both eyes, as well as a multilayered retinoschisis in the left eye. The underlying pathophysiology of the vitelliform lesions may be a dysfunctional Bruch’s membrane.

Keywords

• alport syndrome
• multiple vitelliform lesions
• retina
• type iv collagen
• bruch’s membrane