Related Experiment Video
Updated: May 28, 2026
05:56
Scleral Cross-linking Using Riboflavin and Ultraviolet-A Radiation for Prevention of Axial Myopia in a Rabbit Model
Published on: April 3, 2016
[X linked retinoschisis, unusual presentation: strabismus]
A B Areizaga Osés1, R Martínez Fernández, M Galdos Iztueta
1Unidad de Oftalmología,Hospital San Eloy, Baracaldo, Vizcaya, España. aneareizaga@yahoo.es
Archivos De La Sociedad Espanola De Oftalmologia
|October 19, 2011
Summary
X-linked retinoschisis, a common cause of macular degeneration in boys, can present unusually with strabismus. Genetic testing of the XLRS1 gene aids in diagnosing ambiguous cases of this inherited retinal disease.
Area of Science:
- Ophthalmology
- Genetics
- Pediatric Medicine
Background:
- X-linked retinoschisis (XLRS) is a significant cause of inherited macular degeneration in male children.
- Typical clinical presentation involves foveal schisis, but phenotype variability can complicate diagnosis.
- Early stages may show normal electroretinography (ERG) and optical coherence tomography (OCT) findings.
Observation:
- Two cases of XLRS presented unusually with strabismus in infancy.
- Both patients exhibited peripheral vitreous veils, an atypical finding.
- Genetic analysis confirmed mutations in the XLRS1 gene in both individuals.
Findings:
- The XLRS1 gene mutation screening proved effective for diagnosing these atypical XLRS cases.
- Early strabismus and vitreous veils are potential, though uncommon, indicators of XLRS.
- Genetic confirmation is crucial for definitive diagnosis in clinically ambiguous scenarios.
Implications:
- Highlights the importance of considering XLRS in infants with unexplained strabismus.
- Suggests that XLRS1 gene analysis is a valuable tool for early and accurate diagnosis.
- Emphasizes the need for comprehensive genetic evaluation in pediatric retinal disorders with variable presentations.
