Výsledky vyhledávání

Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig

Autor: Poul Kjer, Hans Eiberg, A. Jonasdottir, Birgit Kjer, Thomas Rosenberg

Publikováno v: Human Genetics. 99:115-120

Dominant optic atrophy, type Kjer, is an autosomal dominant eye disease that is characterized by progressive optic atrophy with onset in early childhood, decrease of visual acuity, colour vision defects and centrocecal scotoma. By examination of 5 Da

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2413be62e9725e3dff9f35113922b10
https://doi.org/10.1007/s004390050323

Zobrazit plný text záznamu

Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis

Autor: Poul Kjer, Thomas Rosenberg, Birgit Kjer, Hans Eiberg

Publikováno v: Human Molecular Genetics. 3:977-980

Dominant optic atrophy, type Kjer (McKusick no. 165500) is an autosomal dominant eye disease. The disease is characterized by moderate to severe visual impairment with an insidious onset during the first decade of life, blue-yellow dyschromatopsia an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86f3e6f55bc0fe5b8f4f1e1033525ae4
https://doi.org/10.1093/hmg/3.6.977

Zobrazit plný text záznamu

Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies

Autor: Pasquale Montagna, M. N. Moraes, Gaetano Cantalupo, Elisa Sancisi, Poul Kjer, Piero Barboni, Vilma Mantovani, Alfredo A. Sadun, D. Milea, Alessandra Munarini, Steffen Heegaard, Valerio Carelli, Chiara La Morgia, Milton N. Moraes-Filho, Jens Hannibal, Fred N. Ross-Cisneros, Solange Rios Salomão, Kevin R. Tozer

Mitochondrial optic neuropathies, that is, Leber hereditary optic neuropathy and dominant optic atrophy, selectively affect retinal ganglion cells, causing visual loss with relatively preserved pupillary light reflex. The mammalian eye contains a lig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7fb1ea53220ca681386043f83b1e3b7
http://hdl.handle.net/11562/429963

Zobrazit plný text záznamu

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect

Autor: Hans Eiberg, Shomi S. Bhattacharya, Alex G. Morris, Thomas Rosenberg, Simon P. Brooks, Dawn L. Thiselton, Marcela Votruba, Birgit Kjer, Christiane Alexander, Poul Kjer

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname

5 páginas, 2 figuras, 2 tablas.-- et al.
Dominant optic atrophy (DOA) is a hereditary optic neuropathy characterised by decreased visual acuity, colour vision deficits, centro-coecal scotoma and optic nerve pallor. The gene OPA1, encoding a dyn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e4e4cf63167ad1251f2774a5e8f645b
http://hdl.handle.net/10261/40263

Zobrazit plný text záznamu

Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects

Autor: Poul Kjer, Hans Eiberg, Birgit Kjer, Thomas Rosenberg

Publikováno v: Acta ophthalmologica Scandinavica. 74(1)

Sixty-two patients from three large Danish families with autosomal dominant optic atrophy were clinically examined, and retrospective follow-up was made on 30 patients. We found great inter-and intrafamiliar variation in visual acuity and visual decl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bb79f2ed18e5add1e1792cbbd830b5e
https://pubmed.ncbi.nlm.nih.gov/8689476

Zobrazit plný text záznamu

Orbital and transorbital stab wounds

Autor: Poul Kjer

Publikováno v: A.M.A. archives of ophthalmology. 51(6)

IT IS NOT rare for orbital stab wounds to become fatal if no specific intervention is made. This is due to the common occurrence of additional, transorbital complications. Nevertheless, no particular attention has been paid to this type of lesion; in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcf65b2b0797c1c2da0ed23df2dee742
https://pubmed.ncbi.nlm.nih.gov/13157713

Zobrazit plný text záznamu