کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8795155 | 1602855 | 2016 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
NeuropatÃa óptica hereditaria de Leber por mutación G11778A del ADN mitocondrial. Manejo de un caso
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
چشم پزشکی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Leber's hereditary optic neuropathy is a mitochondrial genetic disease that typically causes bilateral blindness in young adult males. In addition to mitochodrial ADN mutation other genetic and environmental factors are required for disease development. There is currently no effective treatment for Leber's hereditary optic neuropathy but genetic counseling is important in asymptomatic carriers. We report the case of a 23-year-old male patient with acute unilateral central visual loss that becomes bilateral in weeks. Fundus examination (peripapillary vascular tortuosity, telangiectasia and papillary hyperemia), fluorescein angiography (with no sweating) and thickening of the nerve fiber layer make us suspect the disease. Molecular genetic test demonstrate Leber's hereditary optic neuropathy mutation 11778A in homoplasmy. Despite treatment with idebenone and vitamin supplements, the disease progresses to bilateral papillary atrophy. The future appears to be in the gene therapy currently under investigation.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Revista Mexicana de OftalmologÃa - Volume 90, Issue 6, NovemberâDecember 2016, Pages 295-299
Journal: Revista Mexicana de OftalmologÃa - Volume 90, Issue 6, NovemberâDecember 2016, Pages 295-299
نویسندگان
David Barreda Gago, Isabel Gómez Ledesma, MarÃa de los Ángeles Santiago RodrÃguez, Emiliano Hernández Galilea,