On Aniridia in Sweden and Norway

Research output: ThesisDoctoral Thesis (compilation)

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 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.

Details

Authors
  • Ulla Edén
Organisations
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Ophthalmology

Keywords

  • Gillespie syndrome, Aniridia, PAX6 gene
Original languageEnglish
QualificationDoctor
Awarding Institution
Supervisors/Assistant supervisor
Award date2009 Apr 30
Publisher
  • Department of Clinical Sciences, Lund University
Print ISBNs978-91-86253-23-3
Publication statusPublished - 2009
Publication categoryResearch

Bibliographic note

Defence details Date: 2009-04-30 Time: 10:15 Place: Lund External reviewer(s) Name: Fagerholm, Per Title: Professor Affiliation: Medical Department, University of Linköping, Sweden ---

Related research output

Ulla Edén, Caroline Beijar, Ruth Riise & Kristina Tornqvist, 2008, In : Acta Ophthalmologica. 86, p. 730-734

Research output: Contribution to journalArticle

Ulla Edén, David Iggman, Ruth Riise & Kristina Tornqvist, 2008, In : Acta Ophthalmologica. 86, p. 727-729

Research output: Contribution to journalArticle

View all (2)