SciELO - Scientific Electronic Library Online

vol.82 número10Herida penetrante orbitaria por asta de toroGranuloma piógeno en tapones lagrimales smart plug índice de autoresíndice de materiabúsqueda de artículos
Home Pagelista alfabética de revistas  

Servicios Personalizados




Links relacionados

  • En proceso de indezaciónCitado por Google
  • No hay articulos similaresSimilares en SciELO
  • En proceso de indezaciónSimilares en Google


Archivos de la Sociedad Española de Oftalmología

versión impresa ISSN 0365-6691


PUERTAS-BORDALLO, D. et al. Alström Hallgren syndrome. Arch Soc Esp Oftalmol [online]. 2007, vol.82, n.10, pp.649-652. ISSN 0365-6691.

Introduction: Alstrom-Hallgren syndrome is an inherited condition in which the transmission of a double dose of a mutated gene leads to specific clinical findings. To the present time there has been only one gene detected which leads to this syndrome, the ALMS1 gene. Mutation of this gene leads to progressive blindness due to photoreceptor dystrophy, progressive sensorineural hearing loss, insulin resistant diabetes, morbid obesity and cardiologic abnormalities. Clinical Case: We present the case of a four-year-old male who, after a cardiopulmonary shutdown in the fourth month of life, was diagnosed with a dilated cardiomyopathy. Nystagmus and photophobia followed, and, after ophthalmologic exploration and an electroretinogram, the results were consistent with Alström syndrome. The appropriate genetic studies were then performed. Discussion: The diagnosis in this case was considered basically because of its uncommon clinical features, and the fact a multidisciplinary approach was used in its evaluation. We were only able to confirm the diagnosis by molecular biology techniques, with this resulting in the correct diagnosis in 25-40% of cases. Treatment is symptomatic and the prognosis extremely variable.

Palabras clave : Photoreceptor dystrophy; Diabetes Mellitus; Cardiomyopathy; Obesity; ALSM1.

        · resumen en Español     · texto en Español     · Español ( pdf )


Creative Commons License Todo el contenido de esta revista, excepto dónde está identificado, está bajo una Licencia Creative Commons