Paediatric Ophthalmology:
  Case fourteen

This is the right eye of a three-month old baby boy with bilateral nystagmus.

a. What is the diagnosis?

The picture shows the complete absence of iris.
b. What may be responsible for the nystagmus?
Nystagmus in aniridia results from poor vision which may be due to the following:
  • cataract (this is usually polar)
  • glaucoma
  • foveal hypoplasia
  • optic nerve hypoplasia

c. What is the significance of family history in this condition?

Aniridia may be familial or sporadic.
Familial cases are usually autosomal dominant. Sporadic cases are associated with Wilm's tumour in 30% of cases. Some sporadic cases are linked to deletion of the short arm of chromosome 13 and are associated with mental retardation and genitourinary abnormalities.

d. How would you manage this patient?

Management should include:
  • genetic counselling
  • abdominal ultrasound in sporadic cases to exclude Wilm's tumour
  • regular ocular examination for glaucoma and development of cataract
  • use of sunglasses can be useful in photophobic patients.
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