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- Hammar, BjörnLund University,Lunds universitet,Östergötlands Läns Landsting,Linköpings universitet,Oftalmiatrik,Hälsouniversitetet,Ögonkliniken US/LiM,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine (författare)
A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance
- Artikel/kapitelEngelska2008
Förlag, utgivningsår, omfång ...
- 2008-09-05
- Wiley,2008
- printrdacarrier
Nummerbeteckningar
- LIBRIS-ID:oai:DiVA.org:liu-16132
- https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-16132URI
- https://doi.org/10.1111/j.1600-0420.2007.01123.xDOI
- https://lup.lub.lu.se/record/1283729URI
- http://kipublications.ki.se/Default.aspx?queryparsed=id:117808003URI
Kompletterande språkuppgifter
- Språk:engelska
- Sammanfattning på:engelska
Ingår i deldatabas
- SwePubSwePub
Klassifikation
Anmärkningar
- Purpose: The aim of this study was to characterize the phenotype in a large family with autosomal-dominant recurrent corneal erosions, and also to exclude genetic linkage to known autosomal-dominant inherited corneal dystrophies with clinical resemblance. Methods: We describe the medical history and clinical findings in patients from a six-generation family with recurrent corneal erosions. A total of 28 individuals were evaluated by ophthalmological examination. Genomic DNA was prepared from peripheral blood and analysed with polymorphic microsatellite markers close to known genes causing autosomal-dominant corneal dystrophies. Results: The patients had erosive symptoms that usually lasted from 1 to 7 days. The symptoms were described as early as at 8 months of age, and by the age of 5 the majority of the affected individuals suffered from recurrent corneal erosions. The attacks generally declined in frequency and intensity with age, and 52% of the patients developed central keloid-like corneal opacities. Nine patients received corneal grafts, and recurrences were seen in all grafts. The affected patients did not share haplotypes for genetic microsatellite markers surrounding known genes causing autosomal-dominant corneal dystrophies. Conclusion: We describe a new hereditary disease with recurrent corneal erosions. Attacks of symptoms similar to recurrent erosions dominate the phenotype, but half of those affected also developed corneal, keloid-like, central opacities. This disorder was not genetically linked to any clinically resembling corneal dystrophies with autosomal-dominant inheritance.
Ämnesord och genrebeteckningar
- MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Oftalmologi hsv//swe
- MEDICAL AND HEALTH SCIENCES Clinical Medicine Ophthalmology hsv//eng
- Cornea
- corneal dystrophies
- hereditary
- keloid
- recurrent erosion
- MEDICINE
- MEDICIN
- keloid
- hereditary
- cornea
- corneal dystrophies
- recurrent erosion
Biuppslag (personer, institutioner, konferenser, titlar ...)
- Björk, ErikKarolinska Institutet,Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden (författare)
- Lagerstedt, KristinaKarolinska Institutet,Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden (författare)
- Dellby, AnetteÖstergötlands Läns Landsting,Ögonkliniken US/LiM,Landstinget i Östergötland (författare)
- Fagerholm, PerÖstergötlands Läns Landsting,Linköpings universitet,Oftalmiatrik,Hälsouniversitetet,Ögonkliniken US/LiM(Swepub:liu)perfa04 (författare)
- Linköpings universitetOftalmiatrik (creator_code:org_t)
Sammanhörande titlar
- Ingår i:Acta Ophthalmologica: Wiley86:7, s. 758-7631755-375X1755-3768
Internetlänk
- http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-17490Link to Ph.D. Thesis
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/j.1600-0420.2007.01123.x
- http://dx.doi.org/10.1111/j.1600-0420.2007.01123.xFULLTEXT
- https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-16132
- https://doi.org/10.1111/j.1600-0420.2007.01123.x
- https://lup.lub.lu.se/record/1283729
- http://kipublications.ki.se/Default.aspx?queryparsed=id:117808003
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