onr:"swepub:oai:DiVA.org:liu-16132"
Sökning: onr:"swepub:oai:DiVA.org:liu-16132" > A new corneal disea...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04760naa a2200589 4500 | |
| 001 | oai:DiVA.org:liu-16132 | |
| 003 | SwePub | |
| 008 | 090107s2008 | |||||||||||000 ||eng| | |
| 009 | oai:lup.lub.lu.se:5a32fc90-453d-4862-9880-32c3ca64790d | |
| 009 | oai:prod.swepub.kib.ki.se:117808003 | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-161322 URI |
| 024 | 7 | a https://doi.org/10.1111/j.1600-0420.2007.01123.x2 DOI |
| 024 | 7 | a https://lup.lub.lu.se/record/12837292 URI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1178080032 URI |
| 040 | a (SwePub)liud (SwePub)lud (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Hammar, Björnu Lund 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 Medicine4 aut0 (Swepub:lu)med-bjh |
| 245 | 1 0 | a A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance |
| 264 | c 2008-09-05 | |
| 264 | 1 | b Wiley,c 2008 |
| 338 | a print2 rdacarrier | |
| 520 | a 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. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Oftalmologi0 (SwePub)302172 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Ophthalmology0 (SwePub)302172 hsv//eng |
| 653 | a Cornea | |
| 653 | a corneal dystrophies | |
| 653 | a hereditary | |
| 653 | a keloid | |
| 653 | a recurrent erosion | |
| 653 | a MEDICINE | |
| 653 | a MEDICIN | |
| 653 | a keloid | |
| 653 | a hereditary | |
| 653 | a cornea | |
| 653 | a corneal dystrophies | |
| 653 | a recurrent erosion | |
| 700 | 1 | a Björk, Eriku Karolinska Institutet,Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden4 aut |
| 700 | 1 | a Lagerstedt, Kristinau Karolinska Institutet,Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden4 aut |
| 700 | 1 | a Dellby, Anetteu Östergötlands Läns Landsting,Ögonkliniken US/LiM,Landstinget i Östergötland4 aut |
| 700 | 1 | a Fagerholm, Peru Östergötlands Läns Landsting,Linköpings universitet,Oftalmiatrik,Hälsouniversitetet,Ögonkliniken US/LiM4 aut0 (Swepub:liu)perfa04 |
| 710 | 2 | a Linköpings universitetb Oftalmiatrik4 org |
| 773 | 0 | t Acta Ophthalmologicad : Wileyg 86:7, s. 758-763q 86:7<758-763x 1755-375Xx 1755-3768 |
| 856 | 4 | u http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-17490y Link to Ph.D. Thesis |
| 856 | 4 | u https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/j.1600-0420.2007.01123.x |
| 856 | 4 | u http://dx.doi.org/10.1111/j.1600-0420.2007.01123.xy FULLTEXT |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-16132 |
| 856 | 4 8 | u https://doi.org/10.1111/j.1600-0420.2007.01123.x |
| 856 | 4 8 | u https://lup.lub.lu.se/record/1283729 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:117808003 |
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