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You are asked to perform a routine newborn examination on a term baby, out of hours, as his parents are eager to take him home. When examining his eyes, you note this appearance (figures 1 and 2). The parents ask if you have found a problem and what this means for their baby.
Left eye.
Both eyes.
Test your knowledge
Examination: what term describes the appearance of the eyes in the images?
Coloboma.
Aniridia.
Retinal detachment.
Epiphora.
Ophthalmological problems: which of the following can occur as a result?
Photophobia.
Glaucoma.
Cataract.
Nystagmus.
Decreased visual acuity.
All of the above.
Aetiology: what is the most frequent cause of aniridia?
Congenital infection.
Inherited—autosomal dominant.
Sporadic.
Inherited—X-linked.
Associated problems: should any other investigations be considered?
Chest X-ray
Renal ultrasound
Full …
Footnotes
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.