- Journal of Pediatric Ophthalmology and Strabismus
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.
From the Department of Ophthalmology (EMV, SS, PLG), A. Fiorini Hospital, Polo Pontino, University of Rome, La Sapienza, Italy; The Jackson Laboratory (JDM), Bar Harbor, Maine; and the Department of Medical and Surgical Sciences (PM, GM), University of Padua, Padua, Italy.
The authors have no financial or proprietary interest in the materials presented herein.
Address correspondence to Serena Salvatore, MD, Via Terni 38 E 13, 00182 Rome, Italy.