umu.sePublications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Genetic heterogeneity and clinical outcome in a Swedish family with retinal degeneration caused by mutations in CRB1 and ABCA4 genes
Umeå University, Faculty of Medicine, Department of Medical Biosciences.
Umeå University, Faculty of Medicine, Department of Clinical Sciences, Ophthalmology.
Umeå University, Faculty of Medicine, Department of Clinical Sciences, Ophthalmology.
Umeå University, Faculty of Medicine, Department of Medical Biosciences.
Show others and affiliations
2014 (English)In: Retinal Degenerative Diseases: Mechanisms and Experimental Therapy, Springer Berlin/Heidelberg, 2014, Vol. 801, 177-183 p.Conference paper, Published paper (Refereed)
Abstract [en]

Genetic mechanisms underlying severe retinal dystrophy in a large Swedish family presenting two distinct phenotypes, Leber congenital amaurosis and Stargardt disease were investigated. In the family, four patients with Leber congenital amaurosis were homozygous for a novel c.2557C>T (p.Q853X) mutation in the CRB1 gene, while of two cases with Stargardt disease, one was homozygous for c.5461-10T>C in the ABCA4 gene and another was a compound heterozygous for c.5461-10T>C and a novel ABCA4 mutation c.4773+3 A>G. Sequence analysis of the entire ABCA4 gene in patients with Stargardt disease revealed complex alleles with additional sequence variants.Our results provide evidence of genetic complexity causative of different clinical features present in the same family, which is an obvious challenge for ophthalmologists, molecular geneticists and genetic counsellors.

Place, publisher, year, edition, pages
Springer Berlin/Heidelberg, 2014. Vol. 801, 177-183 p.
Series
Advances in Experimental Medicine and Biology, ISSN 0065-2598 ; 801
Keyword [en]
applanation resonance tonometry, ART, glaucoma, intraocular pressure, ISO standard, tonometry
National Category
Ophthalmology Cell and Molecular Biology
Identifiers
URN: urn:nbn:se:umu:diva-101488DOI: 10.1007/978-1-4614-3209-8_23ISI: 000350418200024PubMedID: 24664696ISBN: 978-1-4614-3209-8 (print)ISBN: 978-1-4614-3208-1 (print)OAI: oai:DiVA.org:umu-101488DiVA: diva2:799679
Conference
15th International Symposium on Retinal Degeneration (RD) Location: GERMANY Date: JUL 16-21, 2012
Available from: 2015-03-31 Created: 2015-03-31 Last updated: 2015-04-26Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Authority records BETA

Jonsson, FridaBurstedt, Marie SSandgren, OlaNorberg, AnnaGolovleva, Irina

Search in DiVA

By author/editor
Jonsson, FridaBurstedt, Marie SSandgren, OlaNorberg, AnnaGolovleva, Irina
By organisation
Department of Medical BiosciencesOphthalmology
OphthalmologyCell and Molecular Biology

Search outside of DiVA

GoogleGoogle Scholar

doi
pubmed
isbn
urn-nbn

Altmetric score

doi
pubmed
isbn
urn-nbn
Total: 97 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf