Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review

source extracted confidence: high 2026-04-09
#blindness #collagen-type-i #eye-diseases #humans #mutation

Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review

Treurniet et al., 2022 | Acta Ophthalmol | Systematic Review

Citation

Treurniet Sanne, Burger Pia, ... Eekhoff Elisabeth Marelise W. Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review. Acta Ophthalmol. 2022-Feb;100(1):e16-e28. doi:10.1111/aos.14882

Abstract

PURPOSE: Osteogenesis imperfecta (OI) is a rare inherited heterogeneous connective tissue disorder characterized by bone fragility, low bone mineral density, skeletal deformity and blue sclera. The dominantly inherited forms of OI are predominantly caused by mutations in either the COL1A1 or COL1A2 gene. Collagen type I is one of the major structural proteins of the eyes and therefore is the eye theoretically prone to alterations in OI. The aim of this systematic review was to provide an overview of the known ocular problems reported in OI. METHODS: A literature search (in PubMed, Embase and Scopus), which included articles from inception to August 2020, was performed in accordance with the PRISMA guidelines. RESULTS: The results of this current review show that almost every component of the eye could be affected in OI. Decreased thickness of the cornea and sclera is an important factor causing eye problems in patients with OI such as blue sclera. Findings that stand out are ruptures, lacerations and other eye problems that occur after minor trauma, as well as complications from standard surgical procedures. DISCUSSION: Alterations in collagen type I affect multiple structural components of the eye. It is recommended that OI patients wear protective glasses against accidental eye trauma. Furthermore, when surgery is required, it should be approached with caution. The prevalence of eye problems in different types of OI is still unknown. Additional research is required to obtain a better understanding of the ocular defects that may occur in OI patients and the underlying pathology.

Key Findings

The results of this current review show that almost every component of the eye could be affected in OI. Decreased thickness of the cornea and sclera is an important factor causing eye problems in patients with OI such as blue sclera. Findings that stand out are ruptures, lacerations and other eye problems that occur after minor trauma, as well as complications from standard surgical procedures.

Outcomes Measured

  • Requires manual extraction

Population

Field Value
Population oi such as blue
Sample Size See abstract
Age Range See abstract
Condition See abstract

MeSH Terms

  • Blindness
  • Collagen Type I
  • Eye Diseases
  • Humans
  • Mutation
  • Osteogenesis Imperfecta
  • Phenotype
  • Risk Factors

Evidence Classification

  • Level: Systematic Review
  • Publication Types: Journal Article, Systematic Review
  • Vertical: collagen

Provenance

Source extracted via PubMed E-utilities API on 2026-04-09