Por favor, use este identificador para citar o enlazar a este item:
http://hdl.handle.net/10261/41052
COMPARTIR / EXPORTAR:
SHARE CORE BASE | |
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE | |
Título: | Clinical and genetic heterogeneity in autosomal dominant cataract |
Autor: | Ionides, Alexander; Bhattacharya, Shom Shanker CSIC ORCID; Moore, Anthony T. | Fecha de publicación: | 1999 | Editor: | BMJ Publishing Group | Citación: | British Journal of Ophthalmology 83(7): 802-808 (1999) | Resumen: | [AIMS]: To determine the different morphologies of autosomal dominant cataract (ADC), assess the intra- and interfamilial variation in cataract morphology, and undertake a genetic linkage study to identify loci for genes causing ADC and detect the underlying mutation. [METHODS]: Patients were recruited from the ocular genetic database at Moorfields Eye Hospital. All individuals underwent an eye examination with particular attention to the lens including anterior segment photography where possible. Blood samples were taken for DNA extraction and genetic linkage analysis was carried out using polymorphic microsatellite markers. [RESULTS]: 292 individuals from 16 large pedigrees with ADC were examined, of whom 161 were found to be affected. The cataract phenotypes could all be described as one of the eight following morphologies—anterior polar, posterior polar, nuclear, lamellar, coralliform, blue dot (cerulean), cortical, and pulverulent. The phenotypes varied in severity but the morphology was consistent within each pedigree, except in those affected by the pulverulent cataract, which showed considerable intrafamilial variation. Positive linkage was obtained in five families; in two families linkage was demonstrated to new loci and in three families linkage was demonstrated to previously described loci. In one of the families the underlying mutation was isolated. Exclusion data were obtained on five families. [CONCLUSIONS]: Although there is considerable clinical heterogeneity in ADC, the phenotype is usually consistent within families. There is extensive genetic heterogeneity and specific cataract phenotypes appear to be associated with mutations at more than one chromosome locus. In cases where the genetic mutation has been identified the molecular biology and clinical phenotype are closely associated. | Descripción: | 7 páginas, 1 figura, 2 tablas.-- Licence Creative Commons, attribution, Non-commercial licence.-- et al. | Versión del editor: | http://dx.doi.org/10.1136/bjo.83.7.802 | URI: | http://hdl.handle.net/10261/41052 | DOI: | 10.1136/bjo.83.7.802 | ISSN: | 0007-1161 | E-ISSN: | 1468-2079 |
Aparece en las colecciones: | (CABIMER) Artículos |
Ficheros en este ítem:
Fichero | Descripción | Tamaño | Formato | |
---|---|---|---|---|
ARTICULOS315483[1].pdf | 152,72 kB | Adobe PDF | Visualizar/Abrir |
CORE Recommender
PubMed Central
Citations
37
checked on 25-mar-2024
SCOPUSTM
Citations
100
checked on 22-mar-2024
WEB OF SCIENCETM
Citations
87
checked on 24-feb-2024
Page view(s)
323
checked on 28-mar-2024
Download(s)
62
checked on 28-mar-2024
Google ScholarTM
Check
Altmetric
Altmetric
Artículos relacionados:
NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.