High-resolution spectral domain optical coherence tomography images of Alström syndrome.

Abstract

Alström syndrome is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy, and progressive hepatic and renal dysfunction. The cone-rod retinal dystrophy usually develops within a few weeks after birth. The authors examined a young boy with Alström syndrome by means of microperimetry and spectral domain optical coherence tomography (OCT). Instead of the typical alterations observed in cone-rod dystrophies, the characteristics of the central foveal tissue suggest signs of retinal immaturity, with only a single layer of short, thick cones and rods and immature short outer segments. High-speed and high-resolution spectral domain OCT allowed a detailed analysis of retinal layers in a young patient with Alström syndrome for the first time. Copyright 2010, SLACK Incorporated.