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

Abstract

Background 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.

Methods 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).

Results 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).

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

Zusammenfassung

Hintergrund Die Osteogenesis imperfecta (OI) ist eine genetische Störung, bei der es zu Problemen in Geweben kommt, die Typ-I-Kollagen enthalten, hauptsächlich Hornhaut und Sklera im Auge. Obwohl es viele Studien zu Problemen mit dem vorderen Augenabschnitt bei Patienten mit OI gibt, sind Studien zu hinteren Strukturen begrenzt. Die Beteiligung der Sklera kann die retinale Nervenfaserschicht (RNFL) beeinflussen, die indirekt mit dem Augeninnendruck zusammenhängt. Darüber hinaus können die Netzhaut und die Aderhaut, die Typ-I-Kollagen enthalten, betroffen sein. Ziel der Studie war es, die Strukturen des hinteren Segments des Auges, einschließlich der RNFL, der Netzhaut und der Aderhaut, bei Patienten mit Osteogenesis imperfecta (OI) mit denen gesunder Kontrollpersonen zu vergleichen.

Methoden Diese Querschnittstudie rekrutierte 19 Patienten mit OI und 22 gesunde Kontrollpersonen gleichen Alters und Geschlechts. Messungen der RNFL, Netzhaut und Aderhaut wurden mit optischer Kohärenztomografie (Spectralis SD-OCT, Heidelberg Engineering, Heidelberg, Deutschland) erhalten.

Ergebnisse Patienten mit OI (Durchschnittsalter 14,32 ± 5,08 Jahre) und die Kontrollgruppe (Durchschnittsalter 13,73 ± 3,56 Jahre) hatten ein ähnliches Alter, einen ähnlichen Brechungsfehler und ähnliche Augeninnendruckwerte (p > 0,05). Es gab keinen Unterschied zwischen den Gruppen in Bezug auf die RNFL-Dicke, einschließlich der superonasalen, nasalen, inferonasalen, inferotemporalen, temporalen und superotemporalen Sektoren, der Netzhautdicke und der Aderhautdicke an 5 verschiedenen Stellen (p > 0,05, für alle).

Schlussfolgerung Gemäß diesen Ergebnissen beeinflusst die OI klinisch nicht die RNFL, die Netzhaut und die Aderhaut in der Kindheit.

Conclusion Box

Already known:

• There has been a great deal of research into the problems of the anterior segment of the eye in osteogenesis imperfecta (OI) disease where type I collagen is defective.

• In our study, posterior segment structures including type I collagen, retina, choroid and sclera-related retinal nerve fiber layer (RNFL) in OI disease were examined.

Newly described:

• The results of this study suggest that there is no statistically significant difference in RNFL thickness, retinal thickness, or choroidal thickness between pediatric patients with OI and age- and gender-similar control subjects.

• There is a need for further larger studies to be performed on adult patients to assess the impact of OI on the posterior structures of the eye.

Key words

childhood - choroid - osteogenesis imperfecta - retina - retinal nerve fiber layer

Schlüsselwörter

Aderhaut - Kindheit - Osteogenesis imperfecta - Retina - retinale Nervenfaserschicht

Publication History

Received: 30 April 2022

Accepted: 09 September 2022

Article published online:
12 January 2023

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