Stickler Syndrome

Main Features

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

Eye Findings

  • 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

Other Findings

  • 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

Etiology

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

Resources