Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations

Ophthalmic Genet. 2018 Oct;39(5):615-618. doi: 10.1080/13816810.2018.1509355. Epub 2018 Aug 21.


Background: Few reports on surgical outcomes after retinal detachment in Stickler syndrome exist. Also, infantile-onset glaucoma associated with Stickler syndrome has been rarely reported and no reports exist that examine outcomes after glaucoma surgery. This study describes the clinical and genetic associations and the long-term outcomes of retinal detachment repair or glaucoma surgery in patients with Stickler syndrome.

Materials and methods: Retrospective, single-center, case series of patients with Stickler syndrome. Demographics, clinical features, genetic mutations, and long-term surgical outcomes of eyes that experienced retinal detachment or diagnosed with infantile-onset glaucoma were assessed.

Results: Fifteen patients were identified with a mean age of 13 years at presentation and followed for a mean of 6 years. Two-thirds were male. Genetic analysis was performed as part of routine examination in nine patients from eight families. All were identified as having variants in COL2A1, three of which were novel. Six eyes of six patients experienced retinal detachment. Fifty percent of eyes without prophylactic laser treatment experienced retinal detachment, whereas only 5% of eyes that underwent prophylactic therapy detached. Despite surgical intervention for retinal detachment, five eyes became phthisical. Five eyes of three patients were diagnosed with infantile-onset glaucoma. All five eyes required multiple glaucoma surgeries, and three eyes became phthisical.

Conclusions: This study illustrates the surgical challenges encountered in patients with Stickler syndrome. Additionally, infantile-onset glaucoma may be more prevalent than previously reported and presents a challenge in terms of management. A multidisciplinary approach is recommended to provide optimal care to these patients.

Keywords: COL2A1; Stickler syndrome; infantile-onset glaucoma; retinal detachment.

Publication types

  • Clinical Trial

MeSH terms

  • Adolescent
  • Adult
  • Arthritis / genetics*
  • Arthritis / pathology
  • Child
  • Child, Preschool
  • Collagen Type II / genetics*
  • Connective Tissue Diseases / genetics*
  • Connective Tissue Diseases / pathology
  • Eye Diseases, Hereditary / genetics*
  • Eye Diseases, Hereditary / pathology
  • Female
  • Glaucoma / genetics*
  • Glaucoma / pathology
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / pathology
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Middle Aged
  • Mutation*
  • Prognosis
  • Retinal Detachment / genetics*
  • Retinal Detachment / pathology
  • Retrospective Studies
  • Young Adult


  • COL2A1 protein, human
  • Collagen Type II

Supplementary concepts

  • Stickler syndrome, type 1