Article
Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review.
Acta ophthalmologica - 1 Feb 2022
Treurniet Sanne, Burger Pia, Ghyczy Ebba A E, Verbraak Frank D, Curro-Tafili Katie R, Micha Dimitra, Bravenboer Nathalie, Ralston Stuart H, de Vries Ralph, Moll Annette C, Eekhoff Elisabeth Marelise W
Abstract excerpt
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...
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