Macular corneal dystrophy in Iceland. A clinical, genealogic, and immunohistochemical study of 28 patients
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field BACKGROUND: The frequency of different types of macular corneal dystrophy (MCD) was determined in Iceland where MCD accounts for one third of every penetrating keratoplasty. METHODS: The au...
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ftlandspitaliuni:oai:www.hirsla.lsh.is:2336/112773 2023-05-15T16:46:57+02:00 Macular corneal dystrophy in Iceland. A clinical, genealogic, and immunohistochemical study of 28 patients Jonasson, F Oshima, E Thonar, E J Smith, C F Johannsson, J H Klintworth, G K University Department of Ophthalmology, Landakot Hospital, Reykjavik, Iceland. 2010-10-11 http://hdl.handle.net/2336/112773 en eng Elsevier http://www.ingentaconnect.com/content/els/01616420/1996/00000103/00000007/art30559 Ophthalmology. 1996, 103(7):1111-7 0161-6420 8684802 http://hdl.handle.net/2336/112773 Ophthalmology Adolescent Adult Child Preschool Cornea Corneal Dystrophies Hereditary Enzyme-Linked Immunosorbent Assay Female Humans Iceland Immunoenzyme Techniques Keratan Sulfate Keratoplasty Penetrating Male Pedigree Article 2010 ftlandspitaliuni 2022-05-29T08:21:38Z To access publisher full text version of this article. Please click on the hyperlink in Additional Links field BACKGROUND: The frequency of different types of macular corneal dystrophy (MCD) was determined in Iceland where MCD accounts for one third of every penetrating keratoplasty. METHODS: The authors determined the serum levels of antigenic keratan sulfate (aKS) in 27 patients with MCD and 53 unaffected family members by an enzyme-linked immunosorbent assay that uses an anti-KS monoclonal antibody (5-D-4). The authors also stained sections from 37 corneal buttons (including 2 regrafts) from 23 patients with MCD by the avidin-biotin complex method using the same anti-KS monoclonal antibody. RESULTS: Based on the serum analyses, 22 patients had MCD type I and 5 had MCD type II. The corneas from patients without detectable KS in the serum lacked immunohistochemical reactivity to the anti-KS antibody. Every MCD cornea examined from individuals with normal serum KS levels showed KS reactivity. All 53 unaffected siblings and parents carrying the recessive gene had normal serum KS levels. CONCLUSIONS: Macular corneal dystrophy types I (78.6%) and II (21.4%) both occur in Iceland. Members of affected sibships had only one of these types, not both. Nine patients with MCD type I and four persons with MCD type II belonged to a large pedigree in which individuals have been traced as far back as the beginning of the 16th century. The linking of patients with MCD types I and II in an inbred pedigree suggests that both types may be manifestations of the same abnormal gene rather than independent entities. The serum KS levels were not helpful in detecting heterozygous MCD carriers. Article in Journal/Newspaper Iceland Hirsla - Landspítali University Hospital research archive Aks ENVELOPE(9.657,9.657,63.721,63.721) Buttons ENVELOPE(-64.264,-64.264,-65.244,-65.244) |
institution |
Open Polar |
collection |
Hirsla - Landspítali University Hospital research archive |
op_collection_id |
ftlandspitaliuni |
language |
English |
topic |
Adolescent Adult Child Preschool Cornea Corneal Dystrophies Hereditary Enzyme-Linked Immunosorbent Assay Female Humans Iceland Immunoenzyme Techniques Keratan Sulfate Keratoplasty Penetrating Male Pedigree |
spellingShingle |
Adolescent Adult Child Preschool Cornea Corneal Dystrophies Hereditary Enzyme-Linked Immunosorbent Assay Female Humans Iceland Immunoenzyme Techniques Keratan Sulfate Keratoplasty Penetrating Male Pedigree Jonasson, F Oshima, E Thonar, E J Smith, C F Johannsson, J H Klintworth, G K Macular corneal dystrophy in Iceland. A clinical, genealogic, and immunohistochemical study of 28 patients |
topic_facet |
Adolescent Adult Child Preschool Cornea Corneal Dystrophies Hereditary Enzyme-Linked Immunosorbent Assay Female Humans Iceland Immunoenzyme Techniques Keratan Sulfate Keratoplasty Penetrating Male Pedigree |
description |
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field BACKGROUND: The frequency of different types of macular corneal dystrophy (MCD) was determined in Iceland where MCD accounts for one third of every penetrating keratoplasty. METHODS: The authors determined the serum levels of antigenic keratan sulfate (aKS) in 27 patients with MCD and 53 unaffected family members by an enzyme-linked immunosorbent assay that uses an anti-KS monoclonal antibody (5-D-4). The authors also stained sections from 37 corneal buttons (including 2 regrafts) from 23 patients with MCD by the avidin-biotin complex method using the same anti-KS monoclonal antibody. RESULTS: Based on the serum analyses, 22 patients had MCD type I and 5 had MCD type II. The corneas from patients without detectable KS in the serum lacked immunohistochemical reactivity to the anti-KS antibody. Every MCD cornea examined from individuals with normal serum KS levels showed KS reactivity. All 53 unaffected siblings and parents carrying the recessive gene had normal serum KS levels. CONCLUSIONS: Macular corneal dystrophy types I (78.6%) and II (21.4%) both occur in Iceland. Members of affected sibships had only one of these types, not both. Nine patients with MCD type I and four persons with MCD type II belonged to a large pedigree in which individuals have been traced as far back as the beginning of the 16th century. The linking of patients with MCD types I and II in an inbred pedigree suggests that both types may be manifestations of the same abnormal gene rather than independent entities. The serum KS levels were not helpful in detecting heterozygous MCD carriers. |
author2 |
University Department of Ophthalmology, Landakot Hospital, Reykjavik, Iceland. |
format |
Article in Journal/Newspaper |
author |
Jonasson, F Oshima, E Thonar, E J Smith, C F Johannsson, J H Klintworth, G K |
author_facet |
Jonasson, F Oshima, E Thonar, E J Smith, C F Johannsson, J H Klintworth, G K |
author_sort |
Jonasson, F |
title |
Macular corneal dystrophy in Iceland. A clinical, genealogic, and immunohistochemical study of 28 patients |
title_short |
Macular corneal dystrophy in Iceland. A clinical, genealogic, and immunohistochemical study of 28 patients |
title_full |
Macular corneal dystrophy in Iceland. A clinical, genealogic, and immunohistochemical study of 28 patients |
title_fullStr |
Macular corneal dystrophy in Iceland. A clinical, genealogic, and immunohistochemical study of 28 patients |
title_full_unstemmed |
Macular corneal dystrophy in Iceland. A clinical, genealogic, and immunohistochemical study of 28 patients |
title_sort |
macular corneal dystrophy in iceland. a clinical, genealogic, and immunohistochemical study of 28 patients |
publisher |
Elsevier |
publishDate |
2010 |
url |
http://hdl.handle.net/2336/112773 |
long_lat |
ENVELOPE(9.657,9.657,63.721,63.721) ENVELOPE(-64.264,-64.264,-65.244,-65.244) |
geographic |
Aks Buttons |
geographic_facet |
Aks Buttons |
genre |
Iceland |
genre_facet |
Iceland |
op_relation |
http://www.ingentaconnect.com/content/els/01616420/1996/00000103/00000007/art30559 Ophthalmology. 1996, 103(7):1111-7 0161-6420 8684802 http://hdl.handle.net/2336/112773 Ophthalmology |
_version_ |
1766037040641605632 |