Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis

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Hammar, BjörnLund University,Lunds universitet,Linköpings universitet,Östergötlands Läns Landsting,Ögonkliniken US/LiM,Hälsouniversitetet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine (author)

Dystrophia Helsinglandica : a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis

Article/chapterEnglish2009

Publisher, publication year, extent ...

Wiley,2009
printrdacarrier

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LIBRIS-ID:oai:DiVA.org:liu-17487
https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-17487URI
https://doi.org/10.1111/j.1755-3768.2008.01308.xDOI
http://kipublications.ki.se/Default.aspx?queryparsed=id:119261482URI
https://lup.lub.lu.se/record/1476846URI

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Language:English
Summary in:English

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SwePubSwePub

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

Notes

Purpose: To describe the phenotype of an autosomal-dominant corneal dystrophy with an early onset of recurrent corneal erosions and development of subepithelial fibrosis in the cornea, and also to exclude genetic linkage to known corneal dystrophies with autosomal-dominant inheritance and clinical resemblance. Methods: We describe the medical history and clinical findings in individuals from a seven-generation family with recurrent corneal erosions. A total of 43 individuals were evaluated by ophthalmological examination. Genomic DNA was prepared from peripheral blood and polymorphic microsatellite markers were analysed to study haplotypes surrounding genes causing corneal dystrophies with similar phenotypes. Results: Erosive symptoms usually lasted for between 1 and 10 days. By the age of 7 almost all of the affected individuals suffered from recurrent corneal erosions. The attacks generally declined in frequency and intensity from the late 20s, but all examined individuals had developed subepithelial fibrosis by the age of 37. The fibrosis generally started in the mid periphery and was followed in some family members by central fibrosis and the development of gelatinous superficial elevations. Only a marginal reduction of visual acuity was seen in a few individuals. The affected individuals did not share haplotypes for genetic microsatellite markers surrounding genes that are known to cause autosomal-dominant corneal dystrophies. Conclusion: We describe a new type of autosomal-dominant corneal disorder with recurrent corneal erosions and subepithelial fibrosis not significantly affecting visual acuity.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Oftalmologi hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Ophthalmology hsv//eng
Cornea
corneal dystrophies
corneal opacities
hereditary
recurrent erosion
MEDICINE
MEDICIN
recurrent
hereditary
corneal opacities
cornea
corneal dystrophies
erosion

Added entries (persons, corporate bodies, meetings, titles ...)

Björck, ErikKarolinska Institutet (author)
Lind, HelenaHudiksvall Hospital, Hudiksvall, Sweden (author)
Lagerstedt, KristinaKarolinska Institutet (author)
Dellby, AnetteÖstergötlands Läns Landsting,Ögonkliniken US/LiM,Landstinget i Östergötland (author)
Fagerholm, PerÖstergötlands Läns Landsting,Linköpings universitet,Oftalmiatrik,Hälsouniversitetet,Ögonkliniken US/LiM(Swepub:liu)perfa04 (author)
Östergötlands Läns LandstingÖgonkliniken US/LiM (creator_code:org_t)

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In:Acta ophthalmologica: Wiley87:6, s. 659-6671755-37681755-375X

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By the author/editor: Hammar, Björn; Björck, Erik; Lind, Helena; Lagerstedt, Kris ...; Dellby, Anette; Fagerholm, Per

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Ophthalmology

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By the university: Linköping University; Karolinska Institutet; Lund University

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