Author(s):
Firmino, Patrícia ; Barão, Rafael ; Pereira, Débora ; Sá, Mariana de ; Monteiro, Patrícia ; Silva, Paula ; Fonseca, Ana C. ; Poças, Ilda Maria
Date: 2019
Persistent ID: http://hdl.handle.net/10400.21/10744
Origin: Repositório Científico do Instituto Politécnico de Lisboa
Subject(s): Rehabilitation; Osteogenesis imperfecta; Portugal
Description
Osteogenesis imperfecta (OI) can cause several ocular manifestations. The most common (and noticeable) is the bluish coloration of the sclerae (+ type I). Other common manifestations include reduced corneal thickness and rigidity, high refractive errors, keratoconus and glaucoma (higher incidence de per se or higher risk?). Less common: scleral rupture, retinal hemorrhages, CNV, among others. The aim of the study: a) assess and explore the ocular features of OI patients in an adult Portuguese population; b) exploratory analysis of relationships between OI types and ocular phenotypes; and c) exploratory analysis of relationships between several variables.