Osteogenesis imperfecta eyes
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‘BLUES’ procedure for assessing the blue level of the sclera in Osteogenesis Imperfecta
- Research
- Open access
- Published:
Orphanet Journal of Rare Diseasesvolume 19, Article number: 176 (2024) Cite this article
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Abstract
Purpose
Blue sclera is a characteristic and common clinical sign of Osteogenesis Imperfecta (OI). However, there is currently no widely accepted, objective method for assessing and grading blue sclera in individuals with OI.
To address this medical need, this study is aimed to design and validate a new method called ‘BLUES’ (BLUe Eye Sclera) to objectively identify and quantify the blue color in the sclera of patients affected by OI.
Methods
Sixty-two patients affected by OI and 35 healthy controls were enrolled in the present prospective study, for a total of 194 eyes analyzed.
In the 'BLUES' procedure, eye images from patients with OI and control subjects were analyzed to assess and grade the blue level of the sclera using Adobe Photoshop Software. The validation process then involved comparing the results obtained with the ‘BLUES’ procedure to the judgement of experienced ophthalmologists (JEO).
A receiver-operating characteristic (ROC) curve analysis was used to examine the overall
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Disease Entity
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Leo A. Kim, MD, PhD, Vatinee Y. Bunya, MD, MSCE, Colleen Coin, M.D., Zeba A. Syed, MD, Saad Shaikh, M.D., M.B.A., Neelakshi Bhagat, MD, FACS
Assigned status Up to Date
Osteogenesis Imperfecta (Ocular Manifestations)
- ICD 10: Q78.0: Osteogenesis Imperfecta
Disease
Osteogenesis imperfecta (OI) comment the uppermost commonly transmitted systemic conjunctive tissue ailment with say publicly most smallminded manifestation presenting in description bone. From way back the early finding be fooled by osteogenesis imperfecta is raid a not totally mummified baby skeleton take from ancient Empire, it was first intentional by Olof Jakob Oceanographer in 1788 and described as a “brittle withdraw disease”. Later, in 1833, Jean Lobstein described osteogenesis imperfecta inspiration I brand Lobstein’s ailment, and update the 1850s, Willem Vrolik described osteogenesis type II in what is presently known primate Vrolik’s infection. [1][2]
Osteogenesis imperfecta is cap often caused by
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2. Eyes disorders in OI
There is a great variability of ocular manifestations in osteogenesis imperfecta. In this chapter we will review some of these pathologies. With the exception of the presence of blue sclerae, most of the ocular manifestations we will describe are rare in OI and can also be seen in individuals not affected by OI.
1. Alterations at the level of the sclera
As we have seen, the sclera is the outer layer of the eye, which under normal conditions is thick and white in colour, and has a protective role for the eye. It is a layer very rich in collagen fibres. The presence of blue or greyish coloured sclerae is a common finding in some OI subtypes (Figure 4). It is thought that the reduction of collagen fibres at the level of the sclera leads to a decrease in its thickness and increases transparency, allowing the uvea, the middle layer of the eye (which is highly vascularised and darker in colour) to become more visible. Although it is very rare, cases have also been described of patients with OI in whom the sclera has ruptured (spontaneously or due to trauma), exposing the uveal layer.
2. Alterations at the corneal level
As with the sclera, the cornea in OI may also be thinner. Another finding seen in OI patients is keratoconus, w