Keratoconus in Down syndrome: Prevalence, risk factors, severity and corneal tomographic characteristics

Background This study investigated the prevalence, risk factors and severity of corneal tomographic features of keratoconus in Down syndrome (DS). Additionally, previous studies indicate anomalous corneal features in DS, without keratoconus, this study characterised corneal features in DS without ke...

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Veröffentlicht in:Clinical & experimental ophthalmology 2024-01, Vol.52 (1), p.22-30
Hauptverfasser: Mathan, Joyce J., Gokul, Akilesh, Simkin, Samantha K., Meyer, Jay J., McGhee, Charles N. J.
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creator Mathan, Joyce J.
Gokul, Akilesh
Simkin, Samantha K.
Meyer, Jay J.
McGhee, Charles N. J.
description Background This study investigated the prevalence, risk factors and severity of corneal tomographic features of keratoconus in Down syndrome (DS). Additionally, previous studies indicate anomalous corneal features in DS, without keratoconus, this study characterised corneal features in DS without keratoconus. Methods This prospective observational study included participants with DS ≥10 years old. Keratoconus diagnosis, risk factors and corneal tomographic characteristics were recorded. Participants underwent slit‐lamp biomicroscopy, Scheimpflug corneal tomography, corneal topography and autorefraction. A diagnosis of keratoconus (DS‐KC), suspect keratoconus (DS‐SK) and non‐keratoconus (DS‐NK) was made based on expert review of scans by three fellowship trained anterior segment ophthalmologists. Corneal tomography parameters from one eye of each participant were analysed. Results Keratoconus affected 50 (26.3%) of 190 participants, diagnosed by corneal tomography, topography or slit‐lamp signs. Corneal hydrops affected 14.0% of DS‐KC participants. Eye rubbing was a significant risk factor for keratoconus (p = 0.036). 175 (92%) participants could undertake corneal tomography of which tomography assessment alone identified 47 (26.9%) DS‐KC participants, 64 (36.6%) DS‐SK participants and 64 (36.6%) DS‐NK participants. Significant differences (p 
doi_str_mv 10.1111/ceo.14316
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J.</creator><creatorcontrib>Mathan, Joyce J. ; Gokul, Akilesh ; Simkin, Samantha K. ; Meyer, Jay J. ; McGhee, Charles N. J.</creatorcontrib><description>Background This study investigated the prevalence, risk factors and severity of corneal tomographic features of keratoconus in Down syndrome (DS). Additionally, previous studies indicate anomalous corneal features in DS, without keratoconus, this study characterised corneal features in DS without keratoconus. Methods This prospective observational study included participants with DS ≥10 years old. Keratoconus diagnosis, risk factors and corneal tomographic characteristics were recorded. Participants underwent slit‐lamp biomicroscopy, Scheimpflug corneal tomography, corneal topography and autorefraction. A diagnosis of keratoconus (DS‐KC), suspect keratoconus (DS‐SK) and non‐keratoconus (DS‐NK) was made based on expert review of scans by three fellowship trained anterior segment ophthalmologists. Corneal tomography parameters from one eye of each participant were analysed. Results Keratoconus affected 50 (26.3%) of 190 participants, diagnosed by corneal tomography, topography or slit‐lamp signs. Corneal hydrops affected 14.0% of DS‐KC participants. Eye rubbing was a significant risk factor for keratoconus (p = 0.036). 175 (92%) participants could undertake corneal tomography of which tomography assessment alone identified 47 (26.9%) DS‐KC participants, 64 (36.6%) DS‐SK participants and 64 (36.6%) DS‐NK participants. Significant differences (p &lt; 0.001) were identified when the DS‐KC, DS‐SK and DS‐NK groups were compared in maximum keratometry and posterior elevation at the thinnest point respectively: median (interquartile range) 50.20 (10.30D), 47.60 (1.95D), 46.50 (2.40D); 24.0 (38.00 μm), 10.00 (13.75 μm), 8.00 (6.00 μm). The DS‐SK and DS‐NK cohorts had similar minimum pachymetry, however, had several significantly different parameters among which included greater maximum keratometry, posterior elevation at the thinnest point in the DS‐SK group. Conclusions Keratoconus is common in DS. Keratoconus screening with corneal tomography is recommended for early detection.</description><identifier>ISSN: 1442-6404</identifier><identifier>EISSN: 1442-9071</identifier><identifier>DOI: 10.1111/ceo.14316</identifier><identifier>PMID: 37963802</identifier><language>eng</language><publisher>Melbourne: John Wiley &amp; Sons Australia, Ltd</publisher><subject>Child ; Cornea ; Cornea - diagnostic imaging ; Corneal Pachymetry ; corneal tomography ; Corneal Topography - methods ; Down syndrome ; Down Syndrome - complications ; Down Syndrome - diagnosis ; Down Syndrome - epidemiology ; Down's syndrome ; Humans ; Keratoconus ; Keratoconus - complications ; Keratoconus - diagnosis ; Keratoconus - epidemiology ; Prenatal diagnosis ; Prevalence ; Risk Factors ; Tomography ; Topography</subject><ispartof>Clinical &amp; experimental ophthalmology, 2024-01, Vol.52 (1), p.22-30</ispartof><rights>2023 The Authors. published by John Wiley &amp; Sons Australia, Ltd on behalf of Royal Australian and New Zealand College of Ophthalmologists.</rights><rights>2023 The Authors. Clinical &amp; Experimental Ophthalmology published by John Wiley &amp; Sons Australia, Ltd on behalf of Royal Australian and New Zealand College of Ophthalmologists.</rights><rights>2023. This article is published under http://creativecommons.org/licenses/by-nc/4.0/ (the “License”). 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J.</creatorcontrib><title>Keratoconus in Down syndrome: Prevalence, risk factors, severity and corneal tomographic characteristics</title><title>Clinical &amp; experimental ophthalmology</title><addtitle>Clin Exp Ophthalmol</addtitle><description>Background This study investigated the prevalence, risk factors and severity of corneal tomographic features of keratoconus in Down syndrome (DS). Additionally, previous studies indicate anomalous corneal features in DS, without keratoconus, this study characterised corneal features in DS without keratoconus. Methods This prospective observational study included participants with DS ≥10 years old. Keratoconus diagnosis, risk factors and corneal tomographic characteristics were recorded. Participants underwent slit‐lamp biomicroscopy, Scheimpflug corneal tomography, corneal topography and autorefraction. A diagnosis of keratoconus (DS‐KC), suspect keratoconus (DS‐SK) and non‐keratoconus (DS‐NK) was made based on expert review of scans by three fellowship trained anterior segment ophthalmologists. Corneal tomography parameters from one eye of each participant were analysed. Results Keratoconus affected 50 (26.3%) of 190 participants, diagnosed by corneal tomography, topography or slit‐lamp signs. Corneal hydrops affected 14.0% of DS‐KC participants. Eye rubbing was a significant risk factor for keratoconus (p = 0.036). 175 (92%) participants could undertake corneal tomography of which tomography assessment alone identified 47 (26.9%) DS‐KC participants, 64 (36.6%) DS‐SK participants and 64 (36.6%) DS‐NK participants. Significant differences (p &lt; 0.001) were identified when the DS‐KC, DS‐SK and DS‐NK groups were compared in maximum keratometry and posterior elevation at the thinnest point respectively: median (interquartile range) 50.20 (10.30D), 47.60 (1.95D), 46.50 (2.40D); 24.0 (38.00 μm), 10.00 (13.75 μm), 8.00 (6.00 μm). The DS‐SK and DS‐NK cohorts had similar minimum pachymetry, however, had several significantly different parameters among which included greater maximum keratometry, posterior elevation at the thinnest point in the DS‐SK group. Conclusions Keratoconus is common in DS. Keratoconus screening with corneal tomography is recommended for early detection.</description><subject>Child</subject><subject>Cornea</subject><subject>Cornea - diagnostic imaging</subject><subject>Corneal Pachymetry</subject><subject>corneal tomography</subject><subject>Corneal Topography - methods</subject><subject>Down syndrome</subject><subject>Down Syndrome - complications</subject><subject>Down Syndrome - diagnosis</subject><subject>Down Syndrome - epidemiology</subject><subject>Down's syndrome</subject><subject>Humans</subject><subject>Keratoconus</subject><subject>Keratoconus - complications</subject><subject>Keratoconus - diagnosis</subject><subject>Keratoconus - epidemiology</subject><subject>Prenatal diagnosis</subject><subject>Prevalence</subject><subject>Risk Factors</subject><subject>Tomography</subject><subject>Topography</subject><issn>1442-6404</issn><issn>1442-9071</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>WIN</sourceid><sourceid>EIF</sourceid><recordid>eNp10LtOwzAUBmALgSi3gRdAllhA6sWOncRmQ-UqKpUBZstxTmkgsYudFPXtMbQwIOHlePj065wfoWNKhjS-kQE3pJzRbAvtUc6TgSQ53d78M054D-2H8EoISROW7aIey2XGBEn20PwBvG6dcbYLuLL4yn1YHFa29K6BC_zoYalrsAb62FfhDc-0aZ0PfRxgCb5qV1jbEhvnLegat65xL14v5pXBZq59xBGFtjLhEO3MdB3gaDMP0PPN9dP4bjCZ3t6PLycDw7jIBpQUkHIm8pyDkJCWRUpYWRgqBbCES5alRTyCC014AYxBYfKUGK15WmbANDtAZ-vchXfvHYRWNVUwUNfaguuCSoQkLKM5lZGe_qGvrvM2bqcSmVCZCyJEVOdrZbwLwcNMLXzVaL9SlKiv-lWsX33XH-3JJrErGih_5U_fEYzW4KOqYfV_khpfT9eRn0XojtA</recordid><startdate>202401</startdate><enddate>202401</enddate><creator>Mathan, Joyce J.</creator><creator>Gokul, Akilesh</creator><creator>Simkin, Samantha K.</creator><creator>Meyer, Jay J.</creator><creator>McGhee, Charles N. 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J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3486-10be5438774e89e5db503dbc198e3249365b52348a04be33ebc750caa45d6e3a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Child</topic><topic>Cornea</topic><topic>Cornea - diagnostic imaging</topic><topic>Corneal Pachymetry</topic><topic>corneal tomography</topic><topic>Corneal Topography - methods</topic><topic>Down syndrome</topic><topic>Down Syndrome - complications</topic><topic>Down Syndrome - diagnosis</topic><topic>Down Syndrome - epidemiology</topic><topic>Down's syndrome</topic><topic>Humans</topic><topic>Keratoconus</topic><topic>Keratoconus - complications</topic><topic>Keratoconus - diagnosis</topic><topic>Keratoconus - epidemiology</topic><topic>Prenatal diagnosis</topic><topic>Prevalence</topic><topic>Risk Factors</topic><topic>Tomography</topic><topic>Topography</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mathan, Joyce J.</creatorcontrib><creatorcontrib>Gokul, Akilesh</creatorcontrib><creatorcontrib>Simkin, Samantha K.</creatorcontrib><creatorcontrib>Meyer, Jay J.</creatorcontrib><creatorcontrib>McGhee, Charles N. J.</creatorcontrib><collection>Wiley Online Library Open Access</collection><collection>Wiley Online Library Free Content</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>ProQuest Health &amp; Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical &amp; experimental ophthalmology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mathan, Joyce J.</au><au>Gokul, Akilesh</au><au>Simkin, Samantha K.</au><au>Meyer, Jay J.</au><au>McGhee, Charles N. J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Keratoconus in Down syndrome: Prevalence, risk factors, severity and corneal tomographic characteristics</atitle><jtitle>Clinical &amp; experimental ophthalmology</jtitle><addtitle>Clin Exp Ophthalmol</addtitle><date>2024-01</date><risdate>2024</risdate><volume>52</volume><issue>1</issue><spage>22</spage><epage>30</epage><pages>22-30</pages><issn>1442-6404</issn><eissn>1442-9071</eissn><abstract>Background This study investigated the prevalence, risk factors and severity of corneal tomographic features of keratoconus in Down syndrome (DS). Additionally, previous studies indicate anomalous corneal features in DS, without keratoconus, this study characterised corneal features in DS without keratoconus. Methods This prospective observational study included participants with DS ≥10 years old. Keratoconus diagnosis, risk factors and corneal tomographic characteristics were recorded. Participants underwent slit‐lamp biomicroscopy, Scheimpflug corneal tomography, corneal topography and autorefraction. A diagnosis of keratoconus (DS‐KC), suspect keratoconus (DS‐SK) and non‐keratoconus (DS‐NK) was made based on expert review of scans by three fellowship trained anterior segment ophthalmologists. Corneal tomography parameters from one eye of each participant were analysed. Results Keratoconus affected 50 (26.3%) of 190 participants, diagnosed by corneal tomography, topography or slit‐lamp signs. Corneal hydrops affected 14.0% of DS‐KC participants. Eye rubbing was a significant risk factor for keratoconus (p = 0.036). 175 (92%) participants could undertake corneal tomography of which tomography assessment alone identified 47 (26.9%) DS‐KC participants, 64 (36.6%) DS‐SK participants and 64 (36.6%) DS‐NK participants. Significant differences (p &lt; 0.001) were identified when the DS‐KC, DS‐SK and DS‐NK groups were compared in maximum keratometry and posterior elevation at the thinnest point respectively: median (interquartile range) 50.20 (10.30D), 47.60 (1.95D), 46.50 (2.40D); 24.0 (38.00 μm), 10.00 (13.75 μm), 8.00 (6.00 μm). The DS‐SK and DS‐NK cohorts had similar minimum pachymetry, however, had several significantly different parameters among which included greater maximum keratometry, posterior elevation at the thinnest point in the DS‐SK group. Conclusions Keratoconus is common in DS. Keratoconus screening with corneal tomography is recommended for early detection.</abstract><cop>Melbourne</cop><pub>John Wiley &amp; Sons Australia, Ltd</pub><pmid>37963802</pmid><doi>10.1111/ceo.14316</doi><tpages>9</tpages><orcidid>https://orcid.org/0000-0001-5582-0338</orcidid><orcidid>https://orcid.org/0000-0001-7048-0706</orcidid><orcidid>https://orcid.org/0000-0003-0643-9420</orcidid><orcidid>https://orcid.org/0000-0002-4487-0636</orcidid><oa>free_for_read</oa></addata></record>
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source Wiley Online Library - AutoHoldings Journals; MEDLINE
subjects Child
Cornea
Cornea - diagnostic imaging
Corneal Pachymetry
corneal tomography
Corneal Topography - methods
Down syndrome
Down Syndrome - complications
Down Syndrome - diagnosis
Down Syndrome - epidemiology
Down's syndrome
Humans
Keratoconus
Keratoconus - complications
Keratoconus - diagnosis
Keratoconus - epidemiology
Prenatal diagnosis
Prevalence
Risk Factors
Tomography
Topography
title Keratoconus in Down syndrome: Prevalence, risk factors, severity and corneal tomographic characteristics
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