Background: Osteogenesis imperfecta (OI) is a hereditary disease caused by affected collagen type 1. Collagen type 1 is an important structural component of the eye. Ocular manifestations in OI are described in literature, but little is known about the risk of eye diseases in OI.
Objective: To investigate the risk of eye diseases in OI.
Design: A Danish nationwide register-based cohort study based on data from the Danish National Patient Register.
Participants: All patients registered with an OI diagnosis between January 1977 and December 2018 matched 1:5 with a reference population on gender and birth month and birth year.
Measurements: Incidence rates (IR) per 1000 patient years and sub-hazard ratio (SHR) for any eye disease, corneal diseases, cataract, refraction disorders, vitreous haemorrhage, retinal detachment, retinopathy, angiopathy, retinal haemorrhage, retinal degeneration, retinal changes, optic nerve disorders, and traumatic eye lesions.
Results: We identified 907 OI patients (493 women) and 4535 persons (2465 women) in the reference population. The IR for any eye disease was 4.07 [95% CI 3.41–4.85] in the OI cohort and 1.96 [95% CI 1.89–2.12] in the reference cohort. The two diseases with highest incidence was cataract (2.41 [95%CI 1.93–3.03] vs 1.29 [95% CI 1.12–1.47], SHR 1.76 [95% CI 1.34–2.33]) and glaucoma (1.08 [95% CI 0.77–1.51] vs 0.42 [95% CI 0.33–0.54], SHR 2.33 [95% CI 1.55–3.53]). The absolute risk of most other eye diseases was low, but the SHR indicated a higher risk in the OI cohort compared to the reference group showing statistically increased risk of refractive disorders, vitreous haemorrhage, retinal detachment or ruptures, other retinal diseases (i.e., retinopathy, angiopathy, retinal haemorrhage, degeneration, retinal changes), and optic nerve disorders. Corneal diseases and traumatic eye lesions were not statistically significantly increased in OI-patients.
Conclusion: Patients with OI have a higher risk of cataract, refractive disorders, glaucoma, vitreous haemorrhages, retinal detachment/ruptures, retinal diseases, and optic nerve disorders.