On Aniridia in Sweden and Norway

1
On Aniridia in Sweden and Norway

• Department of Clinical Sciences
• Ophthalmology
• Lund University
• Lund, Sweden

ulla.eden_at_gmail.com
2
On Aniridia in Sweden and NorwayDoctorial
thesis Ulla Edén, PhD, Lund University, Sweden
2009

• 1. Epidemiology of Aniridia in Sweden and Norway
• ACTA Ophthal 2008 86727- 729
• 2. Aniridia among children and teenagers in
  Sweden and Norway
• ACTA Ophthal 2008 86730-734
• 3. Aniridia in Sweden and Norway Aspects on
  Corneal complications
• Accepted by Cornea
• 4. Gillespie syndrome
• Submitted

ulla.eden_at_gmail.com
3

• Material
• 181patients with Aniridia
• 124 (69) examined
• 31 families
• 40 sporadic cases (the only one in the family)

4
Methods

• Clinical ophthalmological examination
• Photos
• Pedigrees
• Blood samples for mutation analysis

5
Results

• 1. Prevalence
• 172 000 all ages 147000 under the age of 20
• 2. Mean age 29 (6 weeks 79 years)
• 3. Visual acuity 0.19 (0 - 0.9)
• 4. Glaucoma 43
• 5. Cataract 45

6
Cornea - results

• 1. Visible keratopathy - 80
• 2. Keratopathy disturbing visual acuity - 26
• 3. Significant correlation (irrespectevly of age)
• between
• a) the degree of keratopathy and intraocular
  surgery
• b) the degree of keratopathy and corneal
  sensitivity

7
Conclusion

• Aniridia seems to be more common than earlier
  described
• Complications may appear early in life
• Positive correlation between
• a. Keratopathy/intraocular surgery
• b. Keratopathy/corneal sensitivity (present
  research)

8
One of my patients with Aniridia who learnt me
what life is all about
United and working together we CAN make a
difference!a