Keratoconus tomographic indices in osteogenesis imperfecta
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 com...
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| Published in | Graefe's archive for clinical and experimental ophthalmology Vol. 261; no. 9; pp. 2585 - 2592 |
|---|---|
| Main Authors | , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Berlin/Heidelberg
Springer Berlin Heidelberg
01.09.2023
Springer Nature B.V |
| Subjects | |
| Online Access | Get full text |
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| Abstract | 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. |
|---|---|
| AbstractList | 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.
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.
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).
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. 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. 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.PURPOSEOsteogenesis 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.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.METHODSCross-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.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).RESULTSMost 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).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.CONCLUSIONOI 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. PurposeOsteogenesis 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.MethodsCross-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.ResultsMost 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).ConclusionOI 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. |
| Author | Marques, Raquel Esteves Correia Barão, Rafael Quintas, Ana Miguel Guerra, Paulo Santos, Miguel |
| Author_xml | – sequence: 1 givenname: Rafael orcidid: 0000-0002-3102-1969 surname: Correia Barão fullname: Correia Barão, Rafael email: rafaelcbarao@gmail.com organization: Department of Ophthalmology, Hospital de Santa Maria, CHULN, Visual Sciences Study Center, Faculty of Medicine, University of Lisbon – sequence: 2 givenname: Miguel surname: Santos fullname: Santos, Miguel organization: Department of Ophthalmology, Hospital de Santa Maria, CHULN – sequence: 3 givenname: Raquel Esteves surname: Marques fullname: Marques, Raquel Esteves organization: Visual Sciences Study Center, Faculty of Medicine, University of Lisbon – sequence: 4 givenname: Ana Miguel surname: Quintas fullname: Quintas, Ana Miguel organization: Department of Ophthalmology, Hospital de Santa Maria, CHULN, Visual Sciences Study Center, Faculty of Medicine, University of Lisbon – sequence: 5 givenname: Paulo surname: Guerra fullname: Guerra, Paulo organization: Department of Ophthalmology, Hospital de Santa Maria, CHULN, Visual Sciences Study Center, Faculty of Medicine, University of Lisbon |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/37074408$$D View this record in MEDLINE/PubMed |
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| Keywords | Keratoconus Collagen Corneal tomography Osteogenesis |
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| PublicationSubtitle | Incorporating German Journal of Ophthalmology |
| PublicationTitle | Graefe's archive for clinical and experimental ophthalmology |
| PublicationTitleAbbrev | Graefes Arch Clin Exp Ophthalmol |
| PublicationTitleAlternate | Graefes Arch Clin Exp Ophthalmol |
| PublicationYear | 2023 |
| Publisher | Springer Berlin Heidelberg Springer Nature B.V |
| Publisher_xml | – name: Springer Berlin Heidelberg – name: Springer Nature B.V |
| References | WallaceDJChauFYSantiago-TurlaCOsteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic associationMol Vis201420117411811:CAS:528:DC%2BC2cXhvFKgtrjI253246854153423 EverekliogluCMadenciEBayazitYACentral corneal thickness is lower in osteogenesis imperfecta and negatively correlates with the presence of blue scleraOphthalmic Physiol Opt2002225115151247701510.1046/j.1475-1313.2002.00062.x CampagnaGAl-MohtasebZKhandelwalSSequential traumatic corneal open globe rupture in a patient with osteogenesis imperfecta type IAm J Ophthalmol Case Reports201811353610.1016/j.ajoc.2018.05.001 Mas TurVMacGregorCJayaswalRA review of keratoconus: diagnosis, pathophysiology, and geneticsSurv Ophthalmol2017627707832868889410.1016/j.survophthal.2017.06.009 RosbachJVossmerbaeumerURenieriGOsteogenesis imperfecta und GlaukomDer Ophthalmol20121094794821:STN:280:DC%2BC38zot1agsA%3D%3D10.1007/s00347-011-2455-1 BooteCSigalIAGrytzRScleral structure and biomechanicsProg Retin Eye Res2020741:CAS:528:DC%2BC1MXhs1CnsL%2FN3141227710.1016/j.preteyeres.2019.100773 MagalhaesOARohenkohlHCDe SouzaLTCollagen i defect corneal profiles in osteogenesis imperfectaCornea201837156115653027261510.1097/ICO.0000000000001764 SteinerRBaselDCOL1A1/2 Osteogenesis Imperfecta. GeneReviews® [Internet]2005SeattleUniversity of Washington, Seattle19932022 GreensteinSAFryKLHershPSEffect of topographic cone location on outcomes of corneal collagen cross-linking for keratoconus and corneal ectasiaJ Refract Surg2012283974052269252110.3928/1081597X-20120518-02 KeleşADoǧuiziSŞahinNMAnterior segment findings in patients with osteogenesis imperfecta: a case-control studyCornea2020399359393235511010.1097/ICO.0000000000002345 SillenceDOSennADanksDMGenetic heterogeneity in osteogenesis imperfectaJ Med Genet1979161011161:STN:280:DyaE1M3hvVOrtw%3D%3D458828101273310.1136/jmg.16.2.101 Santodomingo-RubidoJCarracedoGSuzakiAKeratoconus: an updated reviewContact Lens Anterior Eye2022453499197110.1016/j.clae.2021.101559 DimasiDPChenJYHewittAWNovel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genesHum Genet201012733441971436310.1007/s00439-009-0729-3 SalconeEMHamdySMelkiSScleral perforations during routine traction test in a patient with osteogenesis imperfectaJ AAPOS2014186106122544815310.1016/j.jaapos.2014.07.166 BellancaRFScarinciFParravanoMMultimodal imaging in a young male with osteogenesis imperfecta complicated with choroidal neovascularizationEur J Ophthalmol2018301NP21NP243040904310.1177/1120672118811247 BrunnerMCzannerGVinciguerraRImproving precision for detecting change in the shape of the cornea in patients with keratoconusSci Rep201881710.1038/s41598-018-30173-7 DoolanEO’BrienCAbnormal corneal properties in osteogenesis imperfecta and glaucoma: a case seriesBMJ Open Ophthalmol202161810.1136/bmjophth-2020-000684 HaldJDFolkestadLSwanCZOsteogenesis imperfecta and the teeth, eyes, and ears—a study of non-skeletal phenotypes in adultsOsteoporos Int201829278127891:STN:280:DC%2BB3c3hs12guw%3D%3D3014384910.1007/s00198-018-4663-x SitAJChenTCTakusagawaHLCorneal hysteresis for the diagnosis of glaucoma and assessment of progression risk: a report by the American Academy of OphthalmologyOphthalmology202313044334423652957210.1016/j.ophtha.2022.11.009 Alpogan O (2022) Association of osteogenesis imperfecta and glaucoma: case report. Ophthalmic Genet 1–5 VillavicencioOFGilaniFHenriquezMAIndependent population validation of the Belin/Ambrósio enhanced ectasia display: implications for keratoconus studies and screeningInt J Keratoconus Ectatic Corneal Dis201431810.5005/jp-journals-10025-1069 ThomasIHDiMeglioLAAdvances in the classification and treatment of osteogenesis imperfectaCurr Osteoporos Rep201614192686180710.1007/s11914-016-0299-y ScottAKashaniSTowlerHMAProgressive myopia due to posterior staphyloma in type I Osteogenesis ImperfectaInt Ophthalmol2005261671691714965110.1007/s10792-006-9012-y RobinsonMERauchFMendelian bone fragility disordersBone201912611171:CAS:528:DC%2BC1MXptFektrY%3D3103943310.1016/j.bone.2019.04.021 CorreiaFFRamosILopesBTopometric and tomographic indices for the diagnosis of keratoconusInt J Keratoconus Ectatic Corneal Dis20121929910.5005/jp-journals-10025-1018 ArgusWAOcular hypertension and central corneal thicknessOphthalmology1995102181018121:STN:280:DyaK2s3lt1yhsQ%3D%3D909828110.1016/S0161-6420(95)30790-7 ForlinoAMariniJCOsteogenesis imperfectaLancet2016387165716711:CAS:528:DC%2BC2MXhslKktb7F2654248110.1016/S0140-6736(15)00728-X Kaiser-KupferMIMcCainLShapiroJRLow ocular rigidity in patients with osteogenesis imperfectaInvest Ophthalmol Vis Sci1981208078091:STN:280:DyaL3M3hsVyitQ%3D%3D7239850 LagrouLMGilbertJHannibalMAltered corneal biomechanical properties in children with osteogenesis imperfectaJ AAPOS201822183187.e12963503410.1016/j.jaapos.2017.12.015 ZeriFSwannPGNarooSOsteogenesis imperfecta and keratoconus in an Italian familyClin Exp Optom20181014004032897151610.1111/cxo.12617 BonafeLCormier-DaireVHallCNosology and classification of genetic skeletal disorders: 2015 revisionAm J Med Genet Part A2015167286928921:CAS:528:DC%2BC2MXhvVyitbvE10.1002/ajmg.a.37365 KlugSEBekTSubretinal neovascularization as the only ocular sign of osteogenesis imperfecta: a case reportActa Ophthalmol201795e159e1602786486310.1111/aos.13242 TreurnietSBurgerPGhyczyEAEOcular characteristics and complications in patients with osteogenesis imperfecta: a systematic reviewActa Ophthalmol2022100e16e283400973910.1111/aos.14882 PirouzianAO’HalloranHScherCTraumatic and spontaneous scleral rupture and uveal prolapse in osteogenesis imperfectaJ Pediatr Ophthalmol Strabismus2007443153171791317910.3928/01913913-20070901-11 MeekKMCorneal collagen-its role in maintaining corneal shape and transparencyBiophys Rev2009183931:CAS:528:DC%2BD1MXhtV2jtbzF28509987542566510.1007/s12551-009-0011-x PedersenUBramsenTCentral corneal thickness in osteogenesis imperfecta and otosclerosisORL19844638411:STN:280:DyaL2c7ktlGgtA%3D%3D670095410.1159/000275682 ShettyRRaoHKhamarPKeratoconus screening indices and their diagnostic ability to distinguish normal from ectatic corneasAm J Ophthalmol20171811401482868721810.1016/j.ajo.2017.06.031 MedeirosFAMeira-FreitasDLisboaRCorneal hysteresis as a risk factor for glaucoma progression: a prospective longitudinal studyOphthalmology2013120153315402364237110.1016/j.ophtha.2013.01.032 HashemiHHeydarianSHooshmandEThe prevalence and risk factors for keratoconus: a systematic review and meta-analysisCornea2020392633149824710.1097/ICO.0000000000002150 OhEKChoiHJOhJYSequential traumatic and spontaneous corneal rupture in patient with osteogenesis imperfectaCan J Ophthalmol201651e81e842731628510.1016/j.jcjo.2016.01.001 HashemiHBeiranvandAYektaAPentacam top indices for diagnosing subclinical and definite keratoconusJ Curr Ophthalmol201628212627239598488121910.1016/j.joco.2016.01.009 MauriLUebeSStichtHExpanding the clinical spectrum of COL1A1 mutations in different forms of glaucomaOrphanet J Rare Dis20161111210.1186/s13023-016-0495-y MariniJCReichASmithSMOsteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formationCurr Opin Pediatr2014265005071:CAS:528:DC%2BC2cXhtFGmt73F25007323418313210.1097/MOP.0000000000000117 KwitkoSPrettoJCorneal cross-linking in a child with osteogenesis imperfecta syndrome and keratoconusAustralas Med J20171056757010.21767/AMJ.2017.2956 KobayashiAHigashideTYokogawaHIn vivo laser confocal microscopy findings of a cornea with osteogenesis imperfectaClin Ophthalmol2014842943324591812393718610.2147/OPTH.S58087 CongdonNGBromanATBandeen-RocheKCentral corneal thickness and corneal hysteresis associated with glaucoma damageAm J Ophthalmol20061418688751652723110.1016/j.ajo.2005.12.007 GaneshAJennyCGeyerJRetinal hemorrhages in type I osteogenesis imperfecta after minor traumaOphthalmology2004111142814311523415010.1016/j.ophtha.2003.10.028 SillenceDButlerBLathamMNatural history of blue sclerae in osteogenesis imperfectaAm J Med Genet1993451831861:STN:280:DyaK3s3gs12isg%3D%3D845680010.1002/ajmg.1320450207 S Kwitko (6059_CR34) 2017; 10 V Mas Tur (6059_CR43) 2017; 62 NG Congdon (6059_CR45) 2006; 141 6059_CR26 E Doolan (6059_CR22) 2021; 6 OF Villavicencio (6059_CR38) 2014; 3 A Scott (6059_CR11) 2005; 26 S Treurniet (6059_CR18) 2022; 100 OA Magalhaes (6059_CR24) 2018; 37 F Zeri (6059_CR33) 2018; 101 U Pedersen (6059_CR28) 1984; 46 A Ganesh (6059_CR29) 2004; 111 L Bonafe (6059_CR3) 2015; 167 SA Greenstein (6059_CR40) 2012; 28 A Kobayashi (6059_CR17) 2014; 8 MI Kaiser-Kupfer (6059_CR27) 1981; 20 R Steiner (6059_CR1) 2005 RF Bellanca (6059_CR16) 2018; 30 M Brunner (6059_CR39) 2018; 8 IH Thomas (6059_CR7) 2016; 14 J Rosbach (6059_CR21) 2012; 109 D Sillence (6059_CR8) 1993; 45 JD Hald (6059_CR10) 2018; 29 EK Oh (6059_CR13) 2016; 51 KM Meek (6059_CR30) 2009; 1 WA Argus (6059_CR44) 1995; 102 SE Klug (6059_CR14) 2017; 95 H Hashemi (6059_CR35) 2016; 28 ME Robinson (6059_CR6) 2019; 126 EM Salcone (6059_CR12) 2014; 18 R Shetty (6059_CR37) 2017; 181 FA Medeiros (6059_CR46) 2013; 120 L Mauri (6059_CR48) 2016; 11 FF Correia (6059_CR36) 2012; 1 DO Sillence (6059_CR2) 1979; 16 C Evereklioglu (6059_CR9) 2002; 22 G Campagna (6059_CR15) 2018; 11 C Boote (6059_CR31) 2020; 74 AJ Sit (6059_CR47) 2023; 130 LM Lagrou (6059_CR32) 2018; 22 DJ Wallace (6059_CR25) 2014; 20 A Pirouzian (6059_CR23) 2007; 44 JC Marini (6059_CR5) 2014; 26 H Hashemi (6059_CR42) 2020; 39 A Forlino (6059_CR4) 2016; 387 J Santodomingo-Rubido (6059_CR41) 2022; 45 DP Dimasi (6059_CR19) 2010; 127 A Keleş (6059_CR20) 2020; 39 |
| References_xml | – reference: OhEKChoiHJOhJYSequential traumatic and spontaneous corneal rupture in patient with osteogenesis imperfectaCan J Ophthalmol201651e81e842731628510.1016/j.jcjo.2016.01.001 – reference: HashemiHHeydarianSHooshmandEThe prevalence and risk factors for keratoconus: a systematic review and meta-analysisCornea2020392633149824710.1097/ICO.0000000000002150 – reference: BellancaRFScarinciFParravanoMMultimodal imaging in a young male with osteogenesis imperfecta complicated with choroidal neovascularizationEur J Ophthalmol2018301NP21NP243040904310.1177/1120672118811247 – reference: MauriLUebeSStichtHExpanding the clinical spectrum of COL1A1 mutations in different forms of glaucomaOrphanet J Rare Dis20161111210.1186/s13023-016-0495-y – reference: MagalhaesOARohenkohlHCDe SouzaLTCollagen i defect corneal profiles in osteogenesis imperfectaCornea201837156115653027261510.1097/ICO.0000000000001764 – reference: BonafeLCormier-DaireVHallCNosology and classification of genetic skeletal disorders: 2015 revisionAm J Med Genet Part A2015167286928921:CAS:528:DC%2BC2MXhvVyitbvE10.1002/ajmg.a.37365 – reference: DoolanEO’BrienCAbnormal corneal properties in osteogenesis imperfecta and glaucoma: a case seriesBMJ Open Ophthalmol202161810.1136/bmjophth-2020-000684 – reference: DimasiDPChenJYHewittAWNovel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genesHum Genet201012733441971436310.1007/s00439-009-0729-3 – reference: CorreiaFFRamosILopesBTopometric and tomographic indices for the diagnosis of keratoconusInt J Keratoconus Ectatic Corneal Dis20121929910.5005/jp-journals-10025-1018 – reference: Santodomingo-RubidoJCarracedoGSuzakiAKeratoconus: an updated reviewContact Lens Anterior Eye2022453499197110.1016/j.clae.2021.101559 – reference: ScottAKashaniSTowlerHMAProgressive myopia due to posterior staphyloma in type I Osteogenesis ImperfectaInt Ophthalmol2005261671691714965110.1007/s10792-006-9012-y – reference: MedeirosFAMeira-FreitasDLisboaRCorneal hysteresis as a risk factor for glaucoma progression: a prospective longitudinal studyOphthalmology2013120153315402364237110.1016/j.ophtha.2013.01.032 – reference: KeleşADoǧuiziSŞahinNMAnterior segment findings in patients with osteogenesis imperfecta: a case-control studyCornea2020399359393235511010.1097/ICO.0000000000002345 – reference: KobayashiAHigashideTYokogawaHIn vivo laser confocal microscopy findings of a cornea with osteogenesis imperfectaClin Ophthalmol2014842943324591812393718610.2147/OPTH.S58087 – reference: SalconeEMHamdySMelkiSScleral perforations during routine traction test in a patient with osteogenesis imperfectaJ AAPOS2014186106122544815310.1016/j.jaapos.2014.07.166 – reference: ZeriFSwannPGNarooSOsteogenesis imperfecta and keratoconus in an Italian familyClin Exp Optom20181014004032897151610.1111/cxo.12617 – reference: BrunnerMCzannerGVinciguerraRImproving precision for detecting change in the shape of the cornea in patients with keratoconusSci Rep201881710.1038/s41598-018-30173-7 – reference: KwitkoSPrettoJCorneal cross-linking in a child with osteogenesis imperfecta syndrome and keratoconusAustralas Med J20171056757010.21767/AMJ.2017.2956 – reference: RosbachJVossmerbaeumerURenieriGOsteogenesis imperfecta und GlaukomDer Ophthalmol20121094794821:STN:280:DC%2BC38zot1agsA%3D%3D10.1007/s00347-011-2455-1 – reference: ForlinoAMariniJCOsteogenesis imperfectaLancet2016387165716711:CAS:528:DC%2BC2MXhslKktb7F2654248110.1016/S0140-6736(15)00728-X – reference: RobinsonMERauchFMendelian bone fragility disordersBone201912611171:CAS:528:DC%2BC1MXptFektrY%3D3103943310.1016/j.bone.2019.04.021 – reference: Mas TurVMacGregorCJayaswalRA review of keratoconus: diagnosis, pathophysiology, and geneticsSurv Ophthalmol2017627707832868889410.1016/j.survophthal.2017.06.009 – reference: CongdonNGBromanATBandeen-RocheKCentral corneal thickness and corneal hysteresis associated with glaucoma damageAm J Ophthalmol20061418688751652723110.1016/j.ajo.2005.12.007 – reference: CampagnaGAl-MohtasebZKhandelwalSSequential traumatic corneal open globe rupture in a patient with osteogenesis imperfecta type IAm J Ophthalmol Case Reports201811353610.1016/j.ajoc.2018.05.001 – reference: VillavicencioOFGilaniFHenriquezMAIndependent population validation of the Belin/Ambrósio enhanced ectasia display: implications for keratoconus studies and screeningInt J Keratoconus Ectatic Corneal Dis201431810.5005/jp-journals-10025-1069 – reference: HashemiHBeiranvandAYektaAPentacam top indices for diagnosing subclinical and definite keratoconusJ Curr Ophthalmol201628212627239598488121910.1016/j.joco.2016.01.009 – reference: SillenceDOSennADanksDMGenetic heterogeneity in osteogenesis imperfectaJ Med Genet1979161011161:STN:280:DyaE1M3hvVOrtw%3D%3D458828101273310.1136/jmg.16.2.101 – reference: TreurnietSBurgerPGhyczyEAEOcular characteristics and complications in patients with osteogenesis imperfecta: a systematic reviewActa Ophthalmol2022100e16e283400973910.1111/aos.14882 – reference: SillenceDButlerBLathamMNatural history of blue sclerae in osteogenesis imperfectaAm J Med Genet1993451831861:STN:280:DyaK3s3gs12isg%3D%3D845680010.1002/ajmg.1320450207 – reference: GreensteinSAFryKLHershPSEffect of topographic cone location on outcomes of corneal collagen cross-linking for keratoconus and corneal ectasiaJ Refract Surg2012283974052269252110.3928/1081597X-20120518-02 – reference: ArgusWAOcular hypertension and central corneal thicknessOphthalmology1995102181018121:STN:280:DyaK2s3lt1yhsQ%3D%3D909828110.1016/S0161-6420(95)30790-7 – reference: SteinerRBaselDCOL1A1/2 Osteogenesis Imperfecta. 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Osteogenesis imperfecta (OI) is a rare inherited disease affecting collagen-rich tissues. Ocular complications have been reported such as thin corneas,... Osteogenesis imperfecta (OI) is a rare inherited disease affecting collagen-rich tissues. Ocular complications have been reported such as thin corneas, low... PurposeOsteogenesis imperfecta (OI) is a rare inherited disease affecting collagen-rich tissues. Ocular complications have been reported such as thin corneas,... |
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| SubjectTerms | Asymmetry Cornea Eye diseases Hereditary diseases Keratoconus Medicine Medicine & Public Health Ophthalmology Osteogenesis Osteogenesis imperfecta |
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| Title | Keratoconus tomographic indices in osteogenesis imperfecta |
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