Stickler 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

Reference: EyeWiki – Stickler Syndrome

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