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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.  3, fiche 1, Anglais, - X%2Dlinked%20juvenile%20retinoschisis

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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.  3, fiche 1, Anglais, - X%2Dlinked%20juvenile%20retinoschisis

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retinoschisis: Degenerative splitting of the retina into separate layers.  4, fiche 1, Anglais, - X%2Dlinked%20juvenile%20retinoschisis

Fiche 1,  Justifications,  Français

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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 [...]  1, fiche 1, Français, - r%C3%A9tinoschisis%20juv%C3%A9nile%20li%C3%A9%20%C3%A0%20l%27X

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Fiche 2,  Justifications,  Anglais

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A rare genetic neuromuscular disorder that is characterized by muscle weakness that can range from mild to profound.  1, fiche 2, Anglais, - X%2Dlinked%20myotubular%20myopathy

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Common symptoms include mild to profound muscle weakness, diminished muscle tone (hypotonia or "floppiness"), feeding difficulties, and potentially severe breathing complications (respiratory distress). Feeding difficulties and respiratory distress develop because of weakness of the muscles that are involved in swallowing and breathing.  1, fiche 2, Anglais, - X%2Dlinked%20myotubular%20myopathy

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Fiche 3,  Justifications,  Anglais

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Infantile sex-linked hypogammaglobulinemia. A congenital disorder affecting male infants, in which all classes of immunoglobulins may be deficient, with subnormal plasma concentrations.  2, fiche 3, Anglais, - Bruton%26rsquo%3Bs%20agammaglobulinemia

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Absence de lymphocytes B dans le sang et les organes périphériques et qui touche principalement les garçons.  4, fiche 3, Français, - maladie%20de%20Bruton

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Fiche 4,  Justifications,  Anglais

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The transmission of a phenotype that is determined by a gene located on the X chromosome.  1, fiche 4, Anglais, - X%2Dlinked%20inheritance

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Transmission, d'une génération à la suivante, d'un caractère dont le gène correspondant est situé sur le chromosome X.  2, fiche 4, Français, - h%C3%A9r%C3%A9dit%C3%A9%20li%C3%A9e%20%C3%A0%20l%27X

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Fiche 5,  Justifications,  Anglais

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"cross-link": to join by cross-links. [Ex.:] cross-linked polymers.  4, fiche 5, Anglais, - cross%2Dlinked

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"cross-link": a comparatively short connecting unit (as a chemical bond or a chemically bonded atom or group) between neighboring chains of atoms in a complex chemical molecule (as a polymer). Used especially in relation to thermosetting plastics, vulcanized rubber, and proteins.  4, fiche 5, Anglais, - cross%2Dlinked

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Les chaînes (ou macromolécules) ne sont pas indépendantes, mais unies les unes aux autres par des liaisons chimiques. Le caoutchouc naturel vulcanisé, les copolymères du styrène et du divinylbenzène, la plupart des phénoplastes et aminoplastes sont des polymères réticulés.  2, fiche 5, Français, - r%C3%A9ticul%C3%A9

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Fiche 6,  Justifications,  Anglais

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X-linked immunodeficiency with undue susceptibility to Epstein-Barr virus.  2, fiche 6, Anglais, - X%2Dlinked%20lymphoproliferative%20disease

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A rare disease of apparently immunologically normal males who, upon first infection with Epstein-Barr virus, develop fulminating infectious mononucleosis, agammaglobulinemia, or B-cell lymphoma, or bone-marrow aplasia. It shows the inheritance characteristic of X chromosome genetic defects.  2, fiche 6, Anglais, - X%2Dlinked%20lymphoproliferative%20disease

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Déficit immunitaire avec réponse anormale vis-à-vis du virus d'Epstein-Barr (...) Une susceptibilité familiale de transmission récessive liée au sexe a été décrite pour le virus EB responsable de mononucléose sévère, de sarcome ou d'hypogammaglobulinémie chez les garçons d'une même famille.  2, fiche 6, Français, - syndrome%20lymphoprolif%C3%A9ratif%20reli%C3%A9%20au%20chromosome%20X

Fiche 6,  Justifications,  Espagnol