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Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome
Hans Ulrik Moller1, Hans C Fledelius, Dianna M Milewicz
1Department of Ophthalmology, Regional Hospital Central Jutland, Viborg, Denmark. hans.ulrik.moeller@viborg.rm.dk
The British Journal of Ophthalmology
|July 14, 2012
Summary
Congenital mydriasis, linked to ACTA2 gene mutations, signals a rare smooth muscle dysfunction syndrome. Early eye exams reveal pupillary and retinal vessel changes, crucial for diagnosis and managing associated risks.
Area of Science:
- Genetics
- Ophthalmology
- Cardiology
Background:
- A de novo mutation in the ACTA2 gene causes multisystemic smooth muscle dysfunction syndrome.
- This syndrome is associated with patent ductus arteriosus and congenital mydriasis.
Observation:
- Three Danish children with ACTA2-related syndrome were studied.
- Ocular findings and functional consequences for visual development were evaluated.
Findings:
- Persistent pupillary membrane and unresponsive mydriatic pupils were early indicators.
- Retinal arteriole tortuosity, increasing with age, was observed.
- One case showed progression to an aneurysmal state with blood-retinal barrier breakdown.
Implications:
- Congenital mydriasis is a key diagnostic feature for this rare genetic disorder.
- Ophthalmologists must collaborate with specialists due to risks of aortic and cerebrovascular diseases.
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