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Cross-sectionalRheumatology (Oxford, England) · 2026

A simple questionnaire to prevent blindness-a cross-sectional study screening for Stickler syndrome in children.

Robert Smyth, Peter Bale, Thomas R W Nixon … Martin P Snead

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OphthalmologyCross-sectional

A simple questionnaire accurately screens children for Stickler syndrome type 1.

A simple questionnaire to prevent blindness-a cross-sectional study screening for Stickler syndrome in children.

Robert Smyth … Martin P Snead

Rheumatology (Oxford, England) · 2026

Background

Stickler syndrome is a skeletal dysplasia that is widely under-recognised yet the most common cause of inherited retinal detachment in children.

Purpose

Thus, we sought to test an easy-to-use screening tool capable of differentiating children with STL1 from the general paediatric population.

Methods

Children aged 4-10 years with and without COL2A1-confirmed STL1 were recruited from a single specialist centre and online via the national patient support group Stickler Syndrome UK (Registered Charity number 1060421).

n = 26 general paediatric and 28 STL1

Results

correctly flags almost all children who truly have the condition

93%

Sensitivity

96%

Specificity

More results

STL1 participants scored higher on screening tool final score with a median score (IQR) of 7 (3.5) versus 0 (1), which was statistically significant on a Mann-Whitney U test (p < 0.001).

“

Conclusion

We demonstrate a clinically powerful screening tool capable of identifying children with underlying STL1, and thus this questionnaire can now be applied to at-risk children to inform the need for further specialist assessment.

Post

A simple questionnaire to prevent blindness-a cross-sectional study screening for Stickler syndrome in children.

A simple questionnaire accurately screens children for Stickler syndrome type 1.

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