Stickler Syndrome

Connective tissue disorder with ocular, craniofacial, auditory and skeletal manifestation

High myopia (< -3 D)
Vitreous
- Type 1- membranous with persistent vestigial gel in the retrolental spaces bordered by a folded membrane
- Type 2- “beaded” vitreous with sparce irregularly thickened bundles
Retinal detachment 45-60%
- Prophylactic laser retinopexy
Foveal hypoplasia 82%
Cataracts 35-60%
Glaucoma 10%
Congenital megalophthalmos

Craniofacial
- midface retrusion with underdeveloped maxilla and nasal bridge
- Micrognathia
- Cleft palate
- Pierre Robin sequence (micrognathia, glossoptosis, cleft palate) 25%
Hearing loss 50-60%
- sensineural
- conductive from recurrent ear infections and/or ossicular defects
- Mixed
- COL11A1- moderate to severe hearing loss in all frequencies
- COL2A1- milder high-frequency loss.
Skeletal
- Joint hypermobility in childhood
- Early-onset osteoarthritis (age 30-40's)
- Sponidyloepiphyseal dysplasia
- scoliosis
- kyphos
- platyspondyly

Mutation of collagen genes
- COL2A1 and COL11A1
- COL2A1, COL11A1, or COL11A2 or biallelic pathogenic variants in COL9A1, COL9A2, or COL9A3