Advanced

Aniridia among children and teenagers in Sweden and Norway.

Edén, Ulla LU ; Beijar, Caroline; Riise, Ruth and Tornqvist, Kristina LU (2008) In Acta Ophthalmologica 86. p.730-734
Abstract
Purpose: To investigate patients under the age of 20 with aniridia in Sweden and Norway in order to estimate the prevalence of aniridia, to describe clinical signs and identify complications in the young, which will help improve diagnostic tools and treatment. Methods: A thorough search for patients with aniridia (of all ages) was performed. Sixty-two of the 181 patients were under the age of 20. Fifty-two of them were examined and they constituted the study population. Patient history was obtained and all participants underwent clinical ophthalmologic examination, including photography. Blood samples were taken for mutation analysis. Results: Epidemiological data are only based on the results in Sweden. The age-specific prevalence in... (More)
Purpose: To investigate patients under the age of 20 with aniridia in Sweden and Norway in order to estimate the prevalence of aniridia, to describe clinical signs and identify complications in the young, which will help improve diagnostic tools and treatment. Methods: A thorough search for patients with aniridia (of all ages) was performed. Sixty-two of the 181 patients were under the age of 20. Fifty-two of them were examined and they constituted the study population. Patient history was obtained and all participants underwent clinical ophthalmologic examination, including photography. Blood samples were taken for mutation analysis. Results: Epidemiological data are only based on the results in Sweden. The age-specific prevalence in Sweden was 1:47 000, male/female ratio was 0.57, mean age 12 years and median age 14 years. The proportion of sporadic cases including WAGR (Wilms tumour, Aniridia, Genitourinary abnormalities, Mental Retardation) and Gillespie syndrome (aniridia, cerebellar ataxia and mental retardation) was 48%. In the entire study population (Sweden and Norway), the mean visual acuity (VA) was 0.2 (range 0.04-0.9). We found VA < 0.3 in 80% and <0.1 in 18% of the patients. Twenty-two patients (42%) had one or more of the sight threatening complications such as cataract/lens luxation, corneal clouding or glaucoma. Conclusion: Descriptions of aniridia in the younger are rare. This study shows that aniridia seems to be more common than previously estimated and that some complications appear early in life. Watchfulness as regards these complications and regular examinations are essential even in the youngest. (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Acta Ophthalmologica
volume
86
pages
730 - 734
publisher
Wiley-Blackwell
external identifiers
  • wos:000260527200006
  • pmid:18494744
  • scopus:55449137117
ISSN
1755-3768
DOI
10.1111/j.1755-3768.2008.01310.x
language
English
LU publication?
yes
id
f8d4dcaa-f3af-4e23-806e-80848503d1ba (old id 1153898)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/18494744?dopt=Abstract
date added to LUP
2008-06-04 10:19:53
date last changed
2017-10-01 04:54:56
@article{f8d4dcaa-f3af-4e23-806e-80848503d1ba,
  abstract     = {Purpose: To investigate patients under the age of 20 with aniridia in Sweden and Norway in order to estimate the prevalence of aniridia, to describe clinical signs and identify complications in the young, which will help improve diagnostic tools and treatment. Methods: A thorough search for patients with aniridia (of all ages) was performed. Sixty-two of the 181 patients were under the age of 20. Fifty-two of them were examined and they constituted the study population. Patient history was obtained and all participants underwent clinical ophthalmologic examination, including photography. Blood samples were taken for mutation analysis. Results: Epidemiological data are only based on the results in Sweden. The age-specific prevalence in Sweden was 1:47 000, male/female ratio was 0.57, mean age 12 years and median age 14 years. The proportion of sporadic cases including WAGR (Wilms tumour, Aniridia, Genitourinary abnormalities, Mental Retardation) and Gillespie syndrome (aniridia, cerebellar ataxia and mental retardation) was 48%. In the entire study population (Sweden and Norway), the mean visual acuity (VA) was 0.2 (range 0.04-0.9). We found VA &lt; 0.3 in 80% and &lt;0.1 in 18% of the patients. Twenty-two patients (42%) had one or more of the sight threatening complications such as cataract/lens luxation, corneal clouding or glaucoma. Conclusion: Descriptions of aniridia in the younger are rare. This study shows that aniridia seems to be more common than previously estimated and that some complications appear early in life. Watchfulness as regards these complications and regular examinations are essential even in the youngest.},
  author       = {Edén, Ulla and Beijar, Caroline and Riise, Ruth and Tornqvist, Kristina},
  issn         = {1755-3768},
  language     = {eng},
  pages        = {730--734},
  publisher    = {Wiley-Blackwell},
  series       = {Acta Ophthalmologica},
  title        = {Aniridia among children and teenagers in Sweden and Norway.},
  url          = {http://dx.doi.org/10.1111/j.1755-3768.2008.01310.x},
  volume       = {86},
  year         = {2008},
}