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On Aniridia in Sweden and Norway

Edén, Ulla LU (2009) In Lund University, Faculty of Medicine Doctoral Dissertation Series 2009:36.
Abstract
Introduction

Aniridia (iris more or less missing), is a congenital, dominant, inherited, serious and sight-threatening disease, most often appearing as an isolated eye disorder. It is caused by mutations in the PAX6 gene, the master gene of the development of the eye. Typically, Aniridia causes severe visual impairment.

In addition to glare caused by the iris defect, underdevelopment of the macula and the adjacent retina contribute to a reduction of the visual function. A number of complications including lens luxation and/or cataract, glaucoma and keratodystrophy are often superimposed.

Purpose

To increase knowledge about Congenital Aniridia, an uncommon, serious and sight-threatening disease, which is... (More)
Introduction

Aniridia (iris more or less missing), is a congenital, dominant, inherited, serious and sight-threatening disease, most often appearing as an isolated eye disorder. It is caused by mutations in the PAX6 gene, the master gene of the development of the eye. Typically, Aniridia causes severe visual impairment.

In addition to glare caused by the iris defect, underdevelopment of the macula and the adjacent retina contribute to a reduction of the visual function. A number of complications including lens luxation and/or cataract, glaucoma and keratodystrophy are often superimposed.

Purpose

To increase knowledge about Congenital Aniridia, an uncommon, serious and sight-threatening disease, which is not well known, neither by ophthalmologists nor by patients? Many of the treatment strategies used today have insufficient effects.

Material and Methods

We searched for patients with aniridia in the entire populations of two countries, Sweden and Norway, to be able to do a retrospective investigation.The material consists of 181 patients, 123 in Sweden and 58 in Norway. Of the 181 identified patients, a total of 124 (69%) were examined. Four patients with WAGR (Wilm´s tumor, Aniridia, Genitourinary abnormalities, mental Retardation) and four patients with Gillespie syndrome (aniridia, cerebellar ataxia and mental retardation) were included in the material. The examination included recordings of past medical and family history. Blood samples were taken for mutation analysis and pedigrees were established. The first part of the clinical examination was testing of visual acuity. Slit lamp examination and ophthalmoscopy were both supplemented by digital photographs, to enable re-evaluation of the results.

Results

1)Our prevalence figures in children and teenagers with aniridia show that aniridia may be more common than previously estimated.

2)Complications seem to appear earlier in life than previously described in the literature.

3)We found a significant positive correlation between aniridic keratopathy and sensitivity.

4)In contrast to the literature, we found that almost all eyes with congenital aniridia had a normal corneal diameter.

5)Considering the fact that a study of aniridia in Sweden and Norway patients revealed four patients with the Gillespie syndrome compared to some 30 patients reported in the literature, the Gillespie syndrome seems to be less uncommon than previously supposed. (Less)
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author
supervisor
opponent
  • Professor Fagerholm, Per, Medical Department, University of Linköping, Sweden
organization
publishing date
type
Thesis
publication status
published
subject
keywords
Gillespie syndrome, Aniridia, PAX6 gene
in
Lund University, Faculty of Medicine Doctoral Dissertation Series
volume
2009:36
pages
94 pages
publisher
Department of Clinical Sciences, Lund University
defense location
Lund
defense date
2009-04-30 10:15
ISSN
1652-8220
ISBN
978-91-86253-23-3
language
English
LU publication?
yes
id
cd2ace76-fb06-4ae2-abf2-021443b9afa5 (old id 1398625)
date added to LUP
2009-06-15 13:53:35
date last changed
2016-09-19 08:44:51
@phdthesis{cd2ace76-fb06-4ae2-abf2-021443b9afa5,
  abstract     = {Introduction<br/><br>
Aniridia (iris more or less missing), is a congenital, dominant, inherited, serious and sight-threatening disease, most often appearing as an isolated eye disorder. It is caused by mutations in the PAX6 gene, the master gene of the development of the eye. Typically, Aniridia causes severe visual impairment.<br/><br>
In addition to glare caused by the iris defect, underdevelopment of the macula and the adjacent retina contribute to a reduction of the visual function. A number of complications including lens luxation and/or cataract, glaucoma and keratodystrophy are often superimposed.<br/><br>
Purpose<br/><br>
To increase knowledge about Congenital Aniridia, an uncommon, serious and sight-threatening disease, which is not well known, neither by ophthalmologists nor by patients? Many of the treatment strategies used today have insufficient effects. <br/><br>
Material and Methods<br/><br>
We searched for patients with aniridia in the entire populations of two countries, Sweden and Norway, to be able to do a retrospective investigation.The material consists of 181 patients, 123 in Sweden and 58 in Norway. Of the 181 identified patients, a total of 124 (69%) were examined. Four patients with WAGR (Wilm´s tumor, Aniridia, Genitourinary abnormalities, mental Retardation) and four patients with Gillespie syndrome (aniridia, cerebellar ataxia and mental retardation) were included in the material. The examination included recordings of past medical and family history. Blood samples were taken for mutation analysis and pedigrees were established. The first part of the clinical examination was testing of visual acuity. Slit lamp examination and ophthalmoscopy were both supplemented by digital photographs, to enable re-evaluation of the results. <br/><br>
Results<br/><br>
1)Our prevalence figures in children and teenagers with aniridia show that aniridia may be more common than previously estimated.<br/><br>
2)Complications seem to appear earlier in life than previously described in the literature.<br/><br>
3)We found a significant positive correlation between aniridic keratopathy and sensitivity.<br/><br>
4)In contrast to the literature, we found that almost all eyes with congenital aniridia had a normal corneal diameter.<br/><br>
5)Considering the fact that a study of aniridia in Sweden and Norway patients revealed four patients with the Gillespie syndrome compared to some 30 patients reported in the literature, the Gillespie syndrome seems to be less uncommon than previously supposed.},
  author       = {Edén, Ulla},
  isbn         = {978-91-86253-23-3},
  issn         = {1652-8220},
  keyword      = {Gillespie syndrome,Aniridia,PAX6 gene},
  language     = {eng},
  pages        = {94},
  publisher    = {Department of Clinical Sciences, Lund University},
  school       = {Lund University},
  series       = {Lund University, Faculty of Medicine Doctoral Dissertation Series},
  title        = {On Aniridia in Sweden and Norway},
  volume       = {2009:36},
  year         = {2009},
}