Congenital dilated pupil warrants instant investigation


The rare disease multisystemic smooth muscle dysfunction syndrome has a serious outcome

Gene mutation

The condition, caused by the mutation of the ACTA2 gene, is multisystemic smooth muscle dysfunction syndrome, which Dr Møller and colleagues investigated in three Danish children.1 "When we saw the first patient 15 years ago, we thought that the diagnosis was a variant of aniridia and the important thing to do would be to exclude the WAGR association and the risk of Wilms tumour," he continued. "However, this was not the case. We later discovered a lack of accommodation, a dilated aorta and cerebral signs and symptoms from vessel pathology in the brain and thus we realised the common pathophysiology had to be the smooth muscles."

Results and discussion

The occurrence of serious vascular and cardiac problems are not uncommon, he noted. "One of our patients died as a young teenager and one had a neurosurgical procedure for intra cerebral infarction. Furthermore, I have heard from colleagues abroad who saw similar cases that one of their young patients also died," he said.

"In fact, after publication of our cases, it has actually become apparent that the oldest patient has developed further changes in the retinal circulation. Therefore, it is mandatory to follow these patients in a medical retina clinic. This serious, life threatening disease, even though it is a very rare condition, needs urgent attention," he concluded.

Special contributor

Hans Ulrik Møller PhD, is a consultant ophthalmologist, paediatric ophthalmology at the Viborg/Aarhus Hospitals, Denmark. He can be contacted by Email:

Dr Møller has indicated that he has no financial disclosures relating to the content of this piece.


1. H.U. Møller et al., Br. J. Ophthalmol., 2012;96:1227–1231.

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