Collagen I Defect Corneal Profiles in Osteogenesis Imperfecta

Purpose: The goal of this study was to evaluate corneal profiles of patients with osteogenesis imperfecta (OI) due to a collagen I gene mutation. Methods: This was a cross-sectional comparative study. There were 84 eyes from 42 patients with OI types I, III, and IV who were recruited from the OI Clinic at the Clinical Hospital of Porto Alegre, Brazil. All cases presented either COL1A1 or A2 gene mutations. Controls were matched by sex, age, and refractive error. Corneal Scheimpflug tomography was used to determine curvature and thickness parameters in both groups. Results: Quantitative collagen mutations were found only in OI type I. Qualitative mutations were responsible for all mutations observed in type III and IV patients. Each OI type presented significantly lower pachymetric values at the thinnest point compared with controls (443.7–505.1 vs. 541.9–548.5 μm; P
Source: Cornea - Category: Opthalmology Tags: Clinical Science Source Type: research