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Familial Duane's retraction syndrome
N L Busch1, C S Envani, K A Frantz
1Illinois College of Optometry, Chicago, Illinois, USA.
Journal of the American Optometric Association
|August 24, 1999
Summary
Duane's retraction syndrome (DRS) can be inherited. This study identified a family with three members affected by DRS, suggesting an autosomal dominant inheritance pattern for this rare congenital eye condition.
Area of Science:
- Ophthalmology
- Genetics
- Pediatric Neurology
Background:
- Duane's retraction syndrome (DRS) is a congenital eye movement disorder.
- While often sporadic, familial cases of DRS indicate a genetic component.
Observation:
- A Romanian family presented with three affected members exhibiting DRS.
- The affected individuals displayed classic signs of unilateral DRS affecting the left eye.
Findings:
- Key findings included left esotropia in primary gaze and impaired left eye abduction.
- Associated signs were anomalous head posture, eyelid fissure narrowing, and globe retraction on adduction.
Implications:
- This case provides further evidence for autosomal dominant inheritance in some DRS cases.
- Understanding the genetic basis of DRS is crucial for genetic counseling and family studies.