Atrofia óptica de Kjer

Atrofia óptica de Kjer
Especialidad neurología
[editar datos en Wikidata]

La atrofia óptica de Kjer es una enfermedad hereditaria muy rara que afecta al nervio óptico, por lo que puede clasificarse como neuropatía óptica. Ocasiona pérdida de visión de grado variable que comienza en la infancia.

Causas

Atrofia óptica de Kjer se transmite con un patrón autosómico dominante

Se debe a un defecto de carácter genético que se transmite de forma autosómica dominante, por lo que lo padecen por término medio el 50 % de los hijos de una persona afectada.

La mutación anómala se localiza en la región 27-28 del cromosoma 3q y actúa provocando una disfunción mitocondrial que ocasiona la muerte de la fibras que componen el nervio óptico.

Síntomas

La sintomatología comienza antes de los diez años, generalmente a partir de los 6 y produce en una pérdida de visión lenta y progresiva.[1]​ Los síntomas afectan a ambos ojos a veces de forma asimétrica y consisten en defectos en la zona central del campo visual (escotomas) y alteraciones en la percepción de los colores (discromatopsia) que hacen confundir la percepción entre los colores azul y amarillo o entre el rojo y el verde.[1]​

La pérdida total de capacidad visual es muy variable y existen diferencias considerables entre las diferentes familias afectadas.[2]​

Referencias

  1. ↑ a b María Julia Pérez Marrero, Rosaralis Santiesteban Freixas, Marbelis Meneses Pérez, Martha Francisco Plasencia, Beatriz Landrián Iglesias: Atrofia óptica de Kjer. Publicado en la página web de consultoría para la gestión del conocimiento en el Centro Provincial de Información de Ciencias Médicas de Ciego de Ávila Archivado el 29 de junio de 2009 en Wayback Machine.. Consultado el 31-5-2010
  2. ↑ Jack J. Kanski: Oftalmología clínica, 5.ª edición, 2004, ISBN 978-84-8174-758-4. Consultado el 31-5-2010

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