Prevention of Blindness in Stickler Syndrome

Genes (Basel). 2022 Jun 26;13(7):1150. doi: 10.3390/genes13071150.


Stickler syndromes are inherited conditions caused by abnormalities of structural proteins in the eye, inner ear and cartilage. The risk of retinal detachment, particularly due to the development of giant retinal tears, is high. Stickler syndrome is the most common cause of childhood retinal detachment. Although retinal detachment surgery in the general population has a high success rate, outcomes from surgical repair in Stickler syndrome patients are notoriously poor, providing a strong argument for prophylactic intervention. Variable case selection, absence of molecular genetic sub-typing and inconsistent treatment strategies have all contributed to the historic uncertainty regarding the safety and efficacy of prophylactic treatment. This paper reviews the major published clinical studies that have evaluated different methods and strategies for prophylaxis. Based on the current body of literature, there is extremely strong evidence from cohort comparison studies demonstrating the efficacy and safety of prophylactic retinopexy to reduce, but not eliminate, the risk of retinal detachment in Stickler syndrome patients. It is vital that this body of evidence is provided to Stickler syndrome patients, to enable them to make their own fully informed choice about whether to receive prophylaxis for themselves and particularly on behalf of their affected children, to reduce the risk of retinal detachment.

Keywords: COL11A1; COL2A1; cryotherapy; giant retinal tear; laser retinopexy; retinal detachment prophylaxis; stickler syndrome.

Publication types

  • Review

MeSH terms

  • Arthritis* / complications
  • Arthritis* / genetics
  • Arthritis* / surgery
  • Blindness
  • Child
  • Connective Tissue Diseases* / complications
  • Connective Tissue Diseases* / genetics
  • Craniofacial Abnormalities*
  • Eye Diseases, Hereditary*
  • Hearing Loss, Sensorineural
  • Humans
  • Osteochondrodysplasias*
  • Retinal Detachment* / genetics
  • Retinal Detachment* / surgery

Supplementary concepts

  • Stickler syndrome, type 1

Grants and funding

This research received no external funding.