Nontraumatic Descemet Membrane Detachment with Tear in Osteogenesis Imperfecta

Polat, Nihat; Ulucan, Pamuk Betül

doi:10.1007/s40123-015-0034-2

Cited by 8 publications

(10 citation statements)

References 8 publications

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“…Upon investigation, these individuals showed glaucomatous cupping of the optic nerve, leading to visual field loss (Wallace et al, 2014). Other vision-related issues included choroidal neovascularization (Bellanca, Scarinci, & Parravano, 2018), bilateral full thickness macular hole, and Descemet membrane detachment (Polat & Ulucan, 2015) (Table S1).…”

Section: Vision Impairment: Thin Central Corneal Thickness and Riskmentioning

confidence: 99%

Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports

Chougui

Addab

Palomo

et al. 2020

American J of Med Genetics Pt A

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Osteogenesis imperfecta (OI) is a rare genetic disorder of the bones caused by a mutation in Type I collagen genes. As adults with OI are aging, medical concerns secondary to OI may arise. This integrative review sought to review, appraise, and synthesize the clinical manifestations faced by adults with OI. Four electronic bibliographic databases were searched. Published quantitative, qualitative, and mixed‐methods studies, as well as case reports from 2000 to March 2019, addressing a clinical manifestation in adulthood, were reviewed. Eligible studies and case reports were subsequently appraised using the Mixed Methods Appraisal Tool and Case Report Checklist, respectively. Twenty quantitative studies and 88 case reports were included for review regardless of the varying methodological quality score. These studies collectively included 2,510 adults with different OI types. Several clinical manifestations were studied, and included: hearing loss, cardiac diseases, pregnancy complications, cerebrovascular manifestations, musculoskeletal manifestations, respiratory manifestations, vision impairment, and other clinical manifestations. Increased awareness may optimize prevention, treatment, and follow‐up. Opportunities to enhance the methodological quality of research including better design and methodology, multisite collaborations, and larger and diverse sampling will optimize the generalizability and transferability of findings.

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Section: Vision Impairment: Thin Central Corneal Thickness and Riskmentioning

confidence: 99%

Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports

Chougui

Addab

Palomo

et al. 2020

American J of Med Genetics Pt A

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“…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%

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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“…Accidental. Five case reports described ruptures or laceration of the cornea after minor trauma in young patients with OI type I (Natarajan et al 2003;Unver et al 2009;Polat & Ulucan 2015;Oh et al 2016;Campagna et al, 2018). Two case reports reported a corneal laceration in a child (Natarajan et al 2003;Campagna et al, 2018).…”

Section: Bruch's Membrane/choroideamentioning

confidence: 99%

“…Two case reports reported a corneal laceration in a child (Natarajan et al 2003;Campagna et al, 2018). Three case reports described corneal or globe ruptures caused by finger trauma or eye-rubbing (Unver et al 2009;Polat & Ulucan 2015;Oh et al 2016). All studies reported fragility of the cornea which made surgical repair more difficult.…”

Section: Bruch's Membrane/choroideamentioning

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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Nontraumatic Descemet Membrane Detachment with Tear in Osteogenesis Imperfecta

Cited by 8 publications

References 8 publications

Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports

Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports

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

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

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