Related Experiment Videos
Familial unilateral Brown syndrome
Alessandro Iannaccone1, Nathalie McIntosh, Maria Laura Ciccarelli
1Department of Ophthalmology, University of Tennessee, Memphis, TN 38163, USA. iannacca@mail.eye.utmem.edu
Ophthalmic Genetics
|September 27, 2002
Summary
A genetic predisposition likely causes Brown syndrome in this family, with symptoms appearing in late adolescence. This suggests hereditary factors can cause late-onset and intermittent Brown syndrome.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Brown syndrome is a rare condition affecting eye movement.
- Its genetic basis, particularly for late-onset or intermittent forms, remains largely uncharacterized.
Observation:
- Three siblings presented with unilateral, late-onset Brown syndrome, manifesting around 12-13 years of age.
- Symptoms were more severe upon waking, and no other family members showed signs of the condition.
Findings:
- Genetic analysis suggested either autosomal recessive or autosomal dominant inheritance with reduced penetrance.
- No mutations were found in the ARIX (CFEOM2) gene, and specific loci (DURS1, DURS2, FEOM1) were implicated.
Implications:
- A genetic predisposition is likely responsible for Brown syndrome in this family.
- Late onset and intermittent symptoms do not rule out a hereditary cause.
- Further genetic studies are needed to elucidate the genetic underpinnings of Brown syndrome.