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Stickler's syndrome
Genetics: Autosomal Dominance ; COL2A1
Signs:
Myopia
Paravascular pigmentary changes
Dragging of major vessels at the disc
Vitreous – may be membranous / beaded / “empty vitreous” (hypoplastic vitreous)
Retinal detachment – often GRT (and bilateral is common)
Cataract and glaucoma
Systemic features:
Flattened nasal bridge
Short mandible
Long philtre and arthralgia
Pierre Robin Sequence (difficulties in breathing and feeding)
Differential: Wagner syndrome
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