Neuroftalmología » genética https://temas.sld.cu/neuroftalmologia Sitio web de la red de salud de Cuba Sat, 16 Jul 2022 18:30:48 +0000 es-ES hourly 1 A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1 https://temas.sld.cu/neuroftalmologia/2014/12/07/a-new-recessively-inherited-disorder-composed-of-foveal-hypoplasia-optic-nerve-decussation-defects-and-anterior-segment-dysgenesis-maps-to-chromosome-16q233-241/ https://temas.sld.cu/neuroftalmologia/2014/12/07/a-new-recessively-inherited-disorder-composed-of-foveal-hypoplasia-optic-nerve-decussation-defects-and-anterior-segment-dysgenesis-maps-to-chromosome-16q233-241/#comments Sun, 07 Dec 2014 19:58:52 +0000 http://articulos.sld.cu/neuroftalmologia/?p=2364 hipoplasia fovealLos autores previamente habían descrito dos familias con fenotipos únicos que incluían hipoplasia foveal. La primera familia (F1) presentaba hipoplasia foveal y disgenesia del segmento anterior y la segunda (F2) presentaba hipoplasia foveal y alteraciones del entrecruzamiento quiasmático en ausencia de albinismo. En el presente estudio pretenden determinar si ambas familias comparten el mismo desorden genético.

A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1
Al-Araimi M, Pal B, Poulter JA, van Genderen MM, Carr I, Cudrnak T, Brown L, Sheridan E, Mohamed MD, Bradbury J, Ali M, Inglehearn CF, Toomes C. Mol Vis. 2013 Nov 1;19:2165-72. eCollection 2013.

]]> https://temas.sld.cu/neuroftalmologia/2014/12/07/a-new-recessively-inherited-disorder-composed-of-foveal-hypoplasia-optic-nerve-decussation-defects-and-anterior-segment-dysgenesis-maps-to-chromosome-16q233-241/feed/ 0 A case of neuromyelitis optica harboring both anti-aquaporin-4 antibodies and a pathogenic mitochondrial DNA mutation for Leber’s hereditary optic neuropathy https://temas.sld.cu/neuroftalmologia/2014/01/07/a-case-of-neuromyelitis-optica-harboring-both-anti-aquaporin-4-antibodies-and-a-pathogenic-mitochondrial-dna-mutation-for-lebers-hereditary-optic-neuropathy/ https://temas.sld.cu/neuroftalmologia/2014/01/07/a-case-of-neuromyelitis-optica-harboring-both-anti-aquaporin-4-antibodies-and-a-pathogenic-mitochondrial-dna-mutation-for-lebers-hereditary-optic-neuropathy/#comments Tue, 07 Jan 2014 17:21:34 +0000 http://articulos.sld.cu/neuroftalmologia/?p=2357 A case of neuromyelitis optica harboring both anti-aquaporin-4 antibodies and a pathogenic mitochondrial DNA mutation for Leber’s hereditary optic neuropathy.
Shiraishi W, Hayashi S, Kamada T, Isobe N, Yamasaki R, Murai H, Ohyagi Y, Kira JI. Mult Scler. 2013 Nov 21. [Epub ahead of print]

f1_smallLos autores reportan una paciente femenina de 36 años de edad, de origen japonés con neuromielitis óptica y una mutación mitocondrial patógena para neuropatía óptica hereditaria de Leber (mutación puntual G11778A), que presentó muy mala evolución a pesar de la terapia inmunosupresora intensiva.

]]> https://temas.sld.cu/neuroftalmologia/2014/01/07/a-case-of-neuromyelitis-optica-harboring-both-anti-aquaporin-4-antibodies-and-a-pathogenic-mitochondrial-dna-mutation-for-lebers-hereditary-optic-neuropathy/feed/ 0