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X-LINKED JUVENILE RETINOSCHISIS [1 record]

Record 1 2025-08-26

English

Subject field(s)
  • Visual Disorders
CONT

X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. This disorder affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. Damage to the retina impairs the sharpness of vision (visual acuity) in both eyes. Typically, X-linked juvenile retinoschisis affects cells in the central area of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. X-linked juvenile retinoschisis is one type of a broader disorder called macular degeneration, which disrupts the normal functioning of the macula.

OBS

Mutations in the RS1 gene cause most cases of X-linked juvenile retinoschisis. The RS1 gene provides instructions for making a protein called retinoschisin, which is found in the retina.

OBS

retinoschisis: Degenerative splitting of the retina into separate layers.

French

Domaine(s)
  • Troubles de la vision
CONT

Rétinoschisis juvénile lié à l'X. [...] Il s'agit d'une affection génétique rare qui atteint, très généralement, les garçons et les jeunes hommes, et qui entraîne une diminution progressive de l'acuité visuelle. [...] On voit apparaître des formations kystiques dans la rétine, ce qui va entraîner un clivage rétinien à l'origine des altérations anatomiques [...]

Spanish

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