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Published on: September 5, 2011
Bilateral Brown syndrome in monozygotic twins
Seung-Hyun Kim1, Itay Ben-Zion, Daniel E Neely
1Department of Ophthalmology, Section of Pediatric Ophthalmology and Strabismus, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Summary
This study details the first reported case of congenital bilateral Brown syndrome in identical twins. It highlights a rare genetic link in this typically sporadic eye movement disorder.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Brown syndrome is a rare congenital disorder affecting eye movement, characterized by limited elevation of the eye in adduction.
- Most reported cases of Brown syndrome are sporadic and affect only one eye (unilateral).
- Familial occurrences are exceptionally rare, making genetic contributions poorly understood.
Observation:
- A unique case of monozygotic (identical) twins presenting with congenital bilateral Brown syndrome is described.
- Both twins exhibited the characteristic symptoms of limited eye elevation in adduction in both eyes.
- This presentation is highly unusual given the typically sporadic and unilateral nature of the condition.
Findings:
- This is the first documented instance of congenital bilateral Brown syndrome occurring in monozygotic twins.
- The observation suggests a potential, albeit rare, genetic predisposition or shared environmental factor in the etiology of Brown syndrome.
- Review of prior familial cases supports the rarity of genetic transmission.
Implications:
- This case provides valuable insights into the potential genetic underpinnings of Brown syndrome.
- Further research into the genetic factors influencing binocular Brown syndrome in twins may elucidate disease mechanisms.
- Understanding these rare familial patterns can aid in genetic counseling and future diagnostic approaches for congenital eye movement disorders.
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During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Nondisjunction
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
