Genetic testing for optic atrophy
نویسندگان
چکیده
منابع مشابه
Genetic testing for spinal muscular atrophy.
We would be particularly interested to hear more about the clinical phenotype and epidemiology of this cohort of patients. The authors have, for example, included phenotypic patients with facial weakness in their grouping. This is of significance because the international guidelines (ENMC, 1998) regard these as exclusion criteria for SMA. In our cohort of patients, facial weakness in the SMA mo...
متن کاملOptic Atrophy.
BASIC CONSIDERATIONS Optic atrophy is a misleading term which, embedded by tradition and usage, resists precise definition. It is used when there is excessive pallor of the optic disc and is thus a physical sign and not a diagnosis. Since there are many causes of optic pallor, the term is usually reserved for those cases in which there is associated visual defect, either of fields or acuity, in...
متن کاملNo evidence of genetic heterogeneity in dominant optic atrophy.
Autosomal dominant optic atrophy (OPA, MIM 165500) is an eye disease causing a variable reduction of visual acuity with an insidious onset in the first six years of life. It is associated with a central scotoma and an acquired blue-yellow dyschromatopsia. A gene for dominant optic atrophy (OPA1) has recently been mapped to chromosome 3q in three large Danish pedigrees. Here, we confirm the mapp...
متن کاملDominantly inherited optic atrophy.
LEBER'S disease, with its sudden onset in adolescence or early adult life, its rapid course, and puzzling mode of inheritance, has overshadowed other forms of inherited optic atrophy. The early literature contained many cases of "atypical" Leber's disease, but the continued emphasis on the established form, even in the monumental review by Bell (1931), hampered the emergence of other forms as s...
متن کاملDominant optic atrophy
UNLABELLED DEFINITION OF THE DISEASE: Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss, typically starting during the first decade of life. The disease affects primary the retinal ganglion cells (RGC) and their axons forming the optic nerve, which transfer the visual information from the pho...
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ژورنال
عنوان ژورنال: The EuroBiotech Journal
سال: 2017
ISSN: 2564-615X
DOI: 10.24190/issn2564-615x/2017/s1.26