Stickler's syndrome

Genetics: Autosomal Dominance ; COL2A1


Signs:

  1. Myopia

  2. Paravascular pigmentary changes

  3. Dragging of major vessels at the disc

  4. Vitreous – may be membranous / beaded / “empty vitreous” (hypoplastic vitreous)

  5. Retinal detachment – often GRT (and bilateral is common)

  6. Cataract and glaucoma


Systemic features:

  1. Flattened nasal bridge

  2. Short mandible

  3. Long philtre and arthralgia

  4. Pierre Robin Sequence (difficulties in breathing and feeding)

Differential: Wagner syndrome

 
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