A novel COL1A1 mutation causing a variant of osteogenesis imperfecta

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.

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“…2014; Bohnsack 2016; Klug & Bek 2017; Kwitko & Pretto 2017; McVey et al. 2017; Zeri et al. 2017; Bellanca et al.…”

Section: Resultsmentioning

confidence: 99%

“…Rishi et al 2012;Salcone et al 2014;Wallace et al 2014;Bohnsack 2016;Klug & Bek 2017;Kwitko & Pretto 2017;McVey et al 2017;Zeri et al 2017;Bellanca et al 2018;Campagna et al, 2018). Severe myopia (>À6D)…”

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

Treurniet

Burger

Ghyczy

et al. 2021

Acta Ophthalmologica

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A novel COL1A1 mutation causing a variant of osteogenesis imperfecta

Cited by 1 publication

References 8 publications

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

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

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