Anterior Segment Findings in Patients With Osteogenesis Imperfecta: A Case-Control Study

Keles, Ali; Doğuizi, Sibel; Şahin, Nursel; Koç, Mustafa; Aycan, Zehra

doi:10.1097/ico.0000000000002345

Cited by 12 publications

(13 citation statements)

References 28 publications

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“… 2018 ; Keleş et al. 2020 ). Seven studies showed that the mean CCT in patients with OI was significantly lower than in healthy controls (Pedersen & Bramsen 1984 ; Evereklioglu et al.…”

Section: Resultsmentioning

confidence: 99%

Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review

Treurniet

Burger

Ghyczy

et al. 2021

Acta Ophthalmologica

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Purpose Osteogenesis imperfecta (OI) is a rare inherited heterogeneous connective tissue disorder characterized by bone fragility, low bone mineral density, skeletal deformity and blue sclera. The dominantly inherited forms of OI are predominantly caused by mutations in either the COL1A1 or COL1A2 gene. Collagen type I is one of the major structural proteins of the eyes and therefore is the eye theoretically prone to alterations in OI. The aim of this systematic review was to provide an overview of the known ocular problems reported in OI. Methods A literature search (in PubMed, Embase and Scopus), which included articles from inception to August 2020, was performed in accordance with the PRISMA guidelines. Results The results of this current review show that almost every component of the eye could be affected in OI. Decreased thickness of the cornea and sclera is an important factor causing eye problems in patients with OI such as blue sclera. Findings that stand out are ruptures, lacerations and other eye problems that occur after minor trauma, as well as complications from standard surgical procedures. Discussion Alterations in collagen type I affect multiple structural components of the eye. It is recommended that OI patients wear protective glasses against accidental eye trauma. Furthermore, when surgery is required, it should be approached with caution. The prevalence of eye problems in different types of OI is still unknown. Additional research is required to obtain a better understanding of the ocular defects that may occur in OI patients and the underlying pathology.

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“… 2018 ; Keleş et al. 2020 ). Seven studies showed that the mean CCT in patients with OI was significantly lower than in healthy controls (Pedersen & Bramsen 1984 ; Evereklioglu et al.…”

Section: Resultsmentioning

confidence: 99%

Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review

Treurniet

Burger

Ghyczy

et al. 2021

Acta Ophthalmologica

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“…Osteogenesis Imperfecta (OI) is a disorder disrupting type I collagen, affecting around 1 in 15,000 births and an estimated 25-50,000 people in the United States [21,22]. Approximately 90% of cases are autosomal dominant (AD) inherited mutations in COL1A1 or COL1A2 [4].…”

Section: Osteogenesis Imperfectamentioning

confidence: 99%

“…Approximately 90% of cases are autosomal dominant (AD) inherited mutations in COL1A1 or COL1A2 [4]. Because type I collagen contributes to tensile strength in tissue, common manifestations of OI are long bone fractures, low bone mineral density, bone pain, hearing loss, blue sclera, joint laxity, scoliosis, dental abnormalities, subcutaneous hemorrhages, and heart and lung problems [4,21]. However, symptoms vary between the five classifications of OI: type 1 typically presents with blue sclera and a mild, non-deforming phenotype due to a quantitative defect; type 2 is severe and lethal perinatally; type 3 presents with blue sclera and a moderate to severe, progressively deforming phenotype resulting in multiple fractures; type 4 is moderate with normal sclera and limited fractures; type 5 involves calcification of interosseous membranes (Table 1 While type I collagen is found throughout the eye, it is primarily seen in the cornea and sclera.…”

Section: Osteogenesis Imperfectamentioning

confidence: 99%

“…The scleral integrity can be severely disrupted and translucent to the underlying uvea, resulting in blue sclera. OI can also present as thin cornea, megalocornea, keratoconus, ocular fragility, zonular cataracts, dislocated lens, congenital glaucoma, optic atrophy, papilledema, partial color blindness, detachment of Descemet's membrane, or retinal and subhyaloid hemorrhage [21,28,29]. Eye rubbing or finger trauma can lead to corneal or global rupture due to increased ocular fragility, creating concern for scleral perforation during routine procedures [5].…”

Section: Osteogenesis Imperfectamentioning

confidence: 99%

“…Studies have routinely found patients with OI have a thinner CCT that ranges from 362-571 µm, with 52.9% below 500 µm [21]. A study revealed patients with blue sclera or type 1 OI have a significantly lower CCT [24,30,31].…”

Section: Osteogenesis Imperfectamentioning

confidence: 99%

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Controversy and Consideration of Refractive Surgery in Patients with Heritable Disorders of Connective Tissue

Moshirfar

Barke

Huynh

et al. 2021

JCM

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Heritable Disorders of Connective Tissue (HDCTs) are syndromes that disrupt connective tissue integrity. They include Osteogenesis Imperfecta (OI), Ehlers Danlos Syndrome (EDS), Marfan Syndrome (MFS), Loeys-Dietz Syndrome (LDS), Epidermolysis Bullosa (EB), Stickler Syndrome (STL), Wagner Syndrome, and Pseudoxanthoma Elasticum (PXE). Because many patients with HDCTs have ocular symptoms, commonly myopia, they will often present to the clinic seeking refractive surgery. Currently, corrective measures are limited, as the FDA contraindicates laser-assisted in-situ keratomileusis (LASIK) in EDS and discourages the procedure in OI and MFS due to a theoretically increased risk of post-LASIK ectasia, poor wound healing, poor refractive predictability, underlying keratoconus, and globe rupture. While these disorders present with a wide range of ocular manifestations that are associated with an increased risk of post-LASIK complications (e.g., thinned corneas, ocular fragility, keratoconus, glaucoma, ectopia lentis, retinal detachment, angioid streaks, and ocular surface disease), their occurrence and severity are highly variable among patients. Therefore, an HDCT diagnosis should not warrant an immediate disqualification for refractive surgery. Patients with minimal ocular manifestations can consider LASIK. In contrast, those with preoperative signs of corneal thinning and ocular fragility may find the combination of collagen cross-linking (CXL) with either photorefractive keratotomy (PRK), small incision lenticule extraction (SMILE) or a phakic intraocular lens (pIOL) implant to be more suitable options. However, evidence of refractive surgery performed on patients with HDCTs is limited, and surgeons must fully inform patients of the unknown risks and complications before proceeding. This paper serves as a guideline for future studies to evaluate refractive surgery outcomes in patients with HDCTs.

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Keratoconus tomographic indices in osteogenesis imperfecta

Barão

Santos

Marques

et al. 2023

Graefes Arch Clin Exp Ophthalmol

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Purpose Osteogenesis imperfecta (OI) is a rare inherited disease affecting collagen-rich tissues. Ocular complications have been reported such as thin corneas, low ocular rigidity, keratoconus, among others. The purpose of this study is to characterize corneal tomographic features in OI patients compared to unaffected patients, with particular focus on commonly studied keratoconus indices. Methods Cross-sectional case–control study including 37 OI patients and 37 age-matched controls. Patients and controls underwent comprehensive ophthalmological examination including corneal Scheimpflug tomography with a Pentacam HR device (Oculus Optikgeräte GmbH, Wetzlar, Germany) to analyse and compare topometric, tomographic, pachymetric and Belin-Ambrósio Enhanced Ectasia Display III (BAD-D) data of both eyes of each patient. Results Most OI patients had type I disease (n = 24; 65%) but type III–VII patients were also included. Two patients had clinically overt bilateral keratoconus. OI patients had significantly higher maximum keratometry (45.2 ± 2.1 vs. 43.7 ± 1.2; p = 0.0416), front and back elevation (3.0 ± 3.3 vs. 2.1 ± 1.3, p = 0.0201; 11.1 ± 8.2 vs. 5.0 ± 3.7, p < 0.0001), index of surface variance (25.5 ± 13 vs. 17.4 ± 8.3; p = 0.0016), index of vertical asymmetry (0.21 ± 0.14 vs. 0.15 ± 0.06; p = 0.0215), index of height asymmetry (9.2 ± 14 vs. 6.0 ± 4.5; p = 0.0421), index of height decentration (0.02 ± 0.01 vs. 0.01 ± 0.01; p < 0.0001) and average pachymetric progression (1.01 ± 0.19 vs. 0.88 ± 0.14; p < 0.0001) readings. Thinnest corneal thickness and maximum Ambrósio relational thickness were significantly lower (477 ± 52 vs. 543 ± 26; 387 ± 95 vs. 509 ± 49; p < 0.0001). Two-thirds of OI patients had corneas with a minimum thickness < 500 µm. BAD-D value was significantly higher in OI patients (2.1 ± 1.4 vs. 0.9 ± 0.2; p < 0.0001). Conclusion OI patients showed significant changes in corneal profiles compared with healthy subjects. A high proportion of patients had tomographically suspect corneas when using keratoconus diagnostic indices. Further studies are warranted to assess the true risk of corneal ectasia in OI patients.

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Anterior Segment Findings in Patients With Osteogenesis Imperfecta: A Case-Control Study

Cited by 12 publications

References 28 publications

Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review

Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review

Controversy and Consideration of Refractive Surgery in Patients with Heritable Disorders of Connective Tissue

Keratoconus tomographic indices in osteogenesis imperfecta

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