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

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 e

SUBMITTER: Treurniet S 

PROVIDER: S-EPMC9290710 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature