Study into frequency of glaucoma and other diseases in patients with aniridia

Purpose

To evaluate the following in patients with aniridia

  • age at first examination at the University Eye Hospital and age at diagnosis of glaucoma
  • visual acuity
  • frequency of family history of aniridia
  • and frequency of ocular and general diseases associated with aniridia.

Methods

This was a consecutive examination of 30 unrelated patients with aniridia and retrospective evaluation of ophthalmologic, pediatric, and internal findings. The relative frequency of age at glaucoma diagnosis within decades was evaluated for the 20 patients with aniridia and glaucoma. Statistical analysis was performed using the Mann-Whitney test.

Results

Relative frequency of the age of patients with aniridia at time of glaucoma diagnosis within the following decades was as follows:

  • from birth to 9 years: 15%,
  • 10-19: 15%,
  • 20-29: 15%,
  • 30-39: 15%,
  • 40-49: 35%,
  • 50-59: 5%.
  • Visual acuity in the better eye of 20/100 or less was found in 60%.
  • Family history of aniridia was found in 33.3% of patients, with 1-4 relatives with aniridia.
  • A total of 76.7% of patients had congenital cataract
  • 66.7% had glaucoma.
  • Mean maximum intraocular pressure of the 20 patients with glaucoma was 35.9 mmHg in the right and 32.6 mmHg in the left eye.
  • A total of 53.3% had nystagmus,
  • 26.6% corneal opacifications,
  • 16.7% bilateral lens dislocation upwards,
  • 6.7% optic nerve hypoplasia,
  • 3.3% poor foveal development
  • 3.3% Wilms tumor.

Conclusions

  1. Up to the age of 40 years, 15% of patients were diagnosed with glaucoma per age decade.
  2. Frequent bilateral glaucoma and similar bilateral height of intraocular pressure suggest a genetic glaucoma disposition with malformation at Schlemm canal, besides possible sequential anatomic changes in the chamber angle.
  3. Associated ocular abnormalities limit visual prognosis.

Full article “Glaucoma and frequency of ocular and general diseases in 30 patients with aniridia: a clinical study”  available in European Journal Of Opthamology

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About Aniridia Network UK

A charity support group for people with the genetic visual impairment aniridia and their families in the UK. Our vision is that people with/associated with aniridia are hopeful, confident, supported and well informed regarding aniridia. Founded in 2000. Registered as a charity in 2011 with HMRC reference XT26830
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