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High-resolution spectral domain optical coherence tomography images of Alstrom 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.

SUBMITTER: Vingolo EM

PROVIDER: S-EPMC3015152 | biostudies-literature | 2010 May

REPOSITORIES: biostudies-literature

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

Vingolo Enzo Maria EM Salvatore Serena S Grenga Pier Luigi PL Maffei Pietro P Milan Gabriella G Marshall Jan J

Journal of pediatric ophthalmology and strabismus 20100521

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 obse ...[more]

PMID: 21158358

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