title: 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.
authors.affiliation: Department of Ophthalmology, A. Fiorini Hospital, Polo Pontino, University of Rome, La Sapienza, Italy.
authors.forename: Enzo Maria
authors.initials: EM
authors.lastname: Vingolo
authors.forename: Serena
authors.initials: S
authors.lastname: Salvatore
authors.forename: Pier Luigi
authors.initials: PL
authors.lastname: Grenga
authors.forename: Pietro
authors.initials: P
authors.lastname: Maffei
authors.forename: Gabriella
authors.initials: G
authors.lastname: Milan
authors.forename: Jan
authors.initials: J
authors.lastname: Marshall
mesh_terms: D056769:Alstrom Syndrome / Q000175:diagnosis* / Q000503:physiopathology; D002675:Child, Preschool; D003119:Color Perception Tests; D004596:Electroretinography; D006801:Humans; D008297:Male; D012160:Retina / Q000503:physiopathology*; D058499:Retinal Dystrophies / Q000175:diagnosis* / Q000503:physiopathology; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology