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)

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Differential: Wagner syndrome