Stickler Syndrome

Definition

Stickler syndrome is an inherited connective tissue disease characterized by myopia, risk of retinal detachment, and facial anomalies.

Symptoms

  • Myopia
  • Risk of retinal detachment
  • Cleft palate
  • Hearing loss

Reasons

COL2A1, COL11A1 gene mutations.

Diagnosis

Clinical findings, genetic testing.

Treatment

Ophthalmological follow-up.

Which Polyclinic Should You Apply To?

Genetics Polyclinic

What to Do in an Emergency?

In case of suspicion of retinal detachment, emergency services should be consulted.

This page is for general information purposes only.