Assessment of the Retinal Nerve Fibre Layer, Retina, and Choroid in Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is a genetic disorder in which there are problems in tissues containing type I collagen, predominantly the cornea and sclera in the eye. Although there are many studies on problems with the anterior segment of the eye in patients with OI, studies on posterior structures are limited. Involvement of the sclera may affect the retinal nerve fibre layer (RNFL), which is indirectly related to intraocular pressure. In addition, the retina and choroid containing type I collagen may be affected. The aim of the study was to compare the posterior segment structures of the eye, including the RNFL, retina, and choroid, in patients with OI to those of healthy control subjects.

This cross-sectional study recruited 19 patients with OI, as well as 22 age- and gender-similar healthy control subjects. Measurements of the RNFL, retina, and choroid were obtained with optical coherence tomography (Spectralis SD-OCT, Heidelberg Engineering, Heidelberg, Germany).

Patients with OI (mean age 14.32 ± 5.08 years) and the control group (mean age 13.73 ± 3.56 years) had similar age, refractive error, and intraocular pressure values (p > 0.05). There was no difference between groups in terms of RNFL thickness, including the superonasal, nasal, inferonasal, inferotemporal, temporal, and superotemporal sectors, retinal thickness, and choroidal thickness from five different locations (p > 0.05, for all).

According to these results, OI does not clinically affect the RNFL, retina, and choroid in childhood.