Abnormal foveal morphology in carriers of oculocutaneous albinism
Background/aimsTo investigate the foveal morphology in carriers of oculocutaneous albinism (OCA) using spectral domain optical coherence tomography (SD-OCT). A cross-sectional, observational study.MethodsHandheld SD-OCT (Envisu C2300) was used to acquire horizontal scans through the centre of the fo...
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| Veröffentlicht in: | British journal of ophthalmology 2023-08, Vol.107 (8), p.1202-1208 |
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| creator | Kuht, Helen J Thomas, Mervyn G McLean, Rebecca J Sheth, Viral Proudlock, Frank A Gottlob, Irene |
| description | Background/aimsTo investigate the foveal morphology in carriers of oculocutaneous albinism (OCA) using spectral domain optical coherence tomography (SD-OCT). A cross-sectional, observational study.MethodsHandheld SD-OCT (Envisu C2300) was used to acquire horizontal scans through the centre of the fovea in biological parents of patients with OCA (n=28; mean age±SD=40.43±8.07 years) and age-matched and ethnicity-matched controls (n=28; mean age±SD=38.04±10.27 years). Sequence analysis was performed for variants in known genes associated with OCA. Best-corrected visual acuity (BCVA), presence of foveal hypoplasia and grade, foveal, parafoveal and perifoveal thickness measurements of total retinal layers (TRL), inner retinal layers (IRL) and outer retinal layers (ORL) thickness were measured.ResultsFoveal hypoplasia was identified in 32.14% of OCA carriers; grade 1 in all cases. OCA carriers demonstrated significant thicker TRL thickness (median difference: 13.46 µm, p=0.009) and IRL thickness (mean difference: 8.98 µm, p |
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A cross-sectional, observational study.MethodsHandheld SD-OCT (Envisu C2300) was used to acquire horizontal scans through the centre of the fovea in biological parents of patients with OCA (n=28; mean age±SD=40.43±8.07 years) and age-matched and ethnicity-matched controls (n=28; mean age±SD=38.04±10.27 years). Sequence analysis was performed for variants in known genes associated with OCA. Best-corrected visual acuity (BCVA), presence of foveal hypoplasia and grade, foveal, parafoveal and perifoveal thickness measurements of total retinal layers (TRL), inner retinal layers (IRL) and outer retinal layers (ORL) thickness were measured.ResultsFoveal hypoplasia was identified in 32.14% of OCA carriers; grade 1 in all cases. OCA carriers demonstrated significant thicker TRL thickness (median difference: 13.46 µm, p=0.009) and IRL thickness (mean difference: 8.98 µm, p<0.001) at the central fovea compared with controls. BCVA of carriers was between −0.16 and 0.18 logMAR (mean: 0.0 logMAR). No significant differences in BCVA was noted between OCA carriers or controls (p=0.83). In the OCA carriers, we identified previously reported pathogenic variants in TYR, OCA2 and SLC45A2, novel OCA2 variants (n=3) and heterozygosity of the pathogenic TYR haplotype.ConclusionWe have, for the first time, identified foveal abnormalities in OCA carriers. This provides clinical value, particularly in cases where limited phenotype data are available. Our findings raise the possibility that previously reported mild cases of foveal hypoplasia or isolated foveal hypoplasia could correspond to OCA carrier status.</description><identifier>ISSN: 0007-1161</identifier><identifier>EISSN: 1468-2079</identifier><identifier>DOI: 10.1136/bjophthalmol-2020-318192</identifier><identifier>PMID: 35379600</identifier><language>eng</language><publisher>BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group Ltd</publisher><subject>Albinism ; Albinism, Oculocutaneous - diagnosis ; Albinism, Oculocutaneous - genetics ; Albinism, Oculocutaneous - pathology ; Clinical Science ; Cross-Sectional Studies ; Fovea Centralis - pathology ; Genetic testing ; genetics ; Humans ; imaging ; macula ; Morphology ; Mutation ; Ophthalmology ; Retina ; Tomography, Optical Coherence - methods ; vision ; Vision Disorders - pathology ; Visual acuity</subject><ispartof>British journal of ophthalmology, 2023-08, Vol.107 (8), p.1202-1208</ispartof><rights>Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.</rights><rights>Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ.</rights><rights>2022 Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.</rights><rights>2023 Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/ . Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ. 2023</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b522t-43a9e27e6459ba732bc5d812bc69d37cb036108458083f30bf73981ad5f4911b3</citedby><cites>FETCH-LOGICAL-b522t-43a9e27e6459ba732bc5d812bc69d37cb036108458083f30bf73981ad5f4911b3</cites><orcidid>0000-0003-3217-493X ; 0000-0002-7681-3062 ; 0000-0002-4630-1234</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC10359511/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC10359511/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,315,729,782,786,887,27931,27932,53798,53800</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/35379600$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kuht, Helen J</creatorcontrib><creatorcontrib>Thomas, Mervyn G</creatorcontrib><creatorcontrib>McLean, Rebecca J</creatorcontrib><creatorcontrib>Sheth, Viral</creatorcontrib><creatorcontrib>Proudlock, Frank A</creatorcontrib><creatorcontrib>Gottlob, Irene</creatorcontrib><title>Abnormal foveal morphology in carriers of oculocutaneous albinism</title><title>British journal of ophthalmology</title><addtitle>Br J Ophthalmol</addtitle><addtitle>Br J Ophthalmol</addtitle><description>Background/aimsTo investigate the foveal morphology in carriers of oculocutaneous albinism (OCA) using spectral domain optical coherence tomography (SD-OCT). A cross-sectional, observational study.MethodsHandheld SD-OCT (Envisu C2300) was used to acquire horizontal scans through the centre of the fovea in biological parents of patients with OCA (n=28; mean age±SD=40.43±8.07 years) and age-matched and ethnicity-matched controls (n=28; mean age±SD=38.04±10.27 years). Sequence analysis was performed for variants in known genes associated with OCA. Best-corrected visual acuity (BCVA), presence of foveal hypoplasia and grade, foveal, parafoveal and perifoveal thickness measurements of total retinal layers (TRL), inner retinal layers (IRL) and outer retinal layers (ORL) thickness were measured.ResultsFoveal hypoplasia was identified in 32.14% of OCA carriers; grade 1 in all cases. OCA carriers demonstrated significant thicker TRL thickness (median difference: 13.46 µm, p=0.009) and IRL thickness (mean difference: 8.98 µm, p<0.001) at the central fovea compared with controls. BCVA of carriers was between −0.16 and 0.18 logMAR (mean: 0.0 logMAR). No significant differences in BCVA was noted between OCA carriers or controls (p=0.83). In the OCA carriers, we identified previously reported pathogenic variants in TYR, OCA2 and SLC45A2, novel OCA2 variants (n=3) and heterozygosity of the pathogenic TYR haplotype.ConclusionWe have, for the first time, identified foveal abnormalities in OCA carriers. This provides clinical value, particularly in cases where limited phenotype data are available. Our findings raise the possibility that previously reported mild cases of foveal hypoplasia or isolated foveal hypoplasia could correspond to OCA carrier status.</description><subject>Albinism</subject><subject>Albinism, Oculocutaneous - diagnosis</subject><subject>Albinism, Oculocutaneous - genetics</subject><subject>Albinism, Oculocutaneous - pathology</subject><subject>Clinical Science</subject><subject>Cross-Sectional Studies</subject><subject>Fovea Centralis - pathology</subject><subject>Genetic testing</subject><subject>genetics</subject><subject>Humans</subject><subject>imaging</subject><subject>macula</subject><subject>Morphology</subject><subject>Mutation</subject><subject>Ophthalmology</subject><subject>Retina</subject><subject>Tomography, Optical Coherence - methods</subject><subject>vision</subject><subject>Vision Disorders - pathology</subject><subject>Visual acuity</subject><issn>0007-1161</issn><issn>1468-2079</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqFkUtv1DAUhS0EotOBv4AisWGTcq_fXqFRxUuqxAbWlp1xOhk58WAnlfrv6yqlFBawsK5sf_dcHx9CGoQLRCbf-2M6HeaDi2OKLQUKLUONhj4jG-RS1yNlnpMNAKgWUeIZOS_lWLdUonpJzphgykiADdnt_JTy6GLTp5tQy5jy6ZBiur5thqnpXM5DyKVJfZO6JdY1uymkpTQu-mEayviKvOhdLOH1Q92SH58-fr_80l59-_z1cnfVekHp3HLmTKAqSC6Md4pR34m9xlqk2TPVeWASQXOhQbOege8VMxrdXvTcIHq2JR9W3dPix7DvwjRnF-0pD6PLtza5wf55Mw0He51uLAITRtR_25J3Dwo5_VxCme04lC7EuDqyVHJFEYCZir79Cz2mJU_Vn6WaGamEBPpPSnJppNaMV0qvVJdTKTn0j29GsPdx2qdx2vs47RpnbX3z1PNj46_8KsBXwI_H38P_q3sHysSv6Q</recordid><startdate>20230801</startdate><enddate>20230801</enddate><creator>Kuht, Helen J</creator><creator>Thomas, Mervyn G</creator><creator>McLean, Rebecca J</creator><creator>Sheth, Viral</creator><creator>Proudlock, Frank A</creator><creator>Gottlob, Irene</creator><general>BMJ Publishing Group Ltd</general><general>BMJ Publishing Group LTD</general><general>BMJ Publishing Group</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0003-3217-493X</orcidid><orcidid>https://orcid.org/0000-0002-7681-3062</orcidid><orcidid>https://orcid.org/0000-0002-4630-1234</orcidid></search><sort><creationdate>20230801</creationdate><title>Abnormal foveal morphology in carriers of oculocutaneous albinism</title><author>Kuht, Helen J ; Thomas, Mervyn G ; McLean, Rebecca J ; Sheth, Viral ; Proudlock, Frank A ; Gottlob, Irene</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b522t-43a9e27e6459ba732bc5d812bc69d37cb036108458083f30bf73981ad5f4911b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Albinism</topic><topic>Albinism, Oculocutaneous - diagnosis</topic><topic>Albinism, Oculocutaneous - genetics</topic><topic>Albinism, Oculocutaneous - pathology</topic><topic>Clinical Science</topic><topic>Cross-Sectional Studies</topic><topic>Fovea Centralis - pathology</topic><topic>Genetic testing</topic><topic>genetics</topic><topic>Humans</topic><topic>imaging</topic><topic>macula</topic><topic>Morphology</topic><topic>Mutation</topic><topic>Ophthalmology</topic><topic>Retina</topic><topic>Tomography, Optical Coherence - methods</topic><topic>vision</topic><topic>Vision Disorders - pathology</topic><topic>Visual acuity</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kuht, Helen J</creatorcontrib><creatorcontrib>Thomas, Mervyn G</creatorcontrib><creatorcontrib>McLean, Rebecca J</creatorcontrib><creatorcontrib>Sheth, Viral</creatorcontrib><creatorcontrib>Proudlock, Frank A</creatorcontrib><creatorcontrib>Gottlob, Irene</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>British journal of ophthalmology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kuht, Helen J</au><au>Thomas, Mervyn G</au><au>McLean, Rebecca J</au><au>Sheth, Viral</au><au>Proudlock, Frank A</au><au>Gottlob, Irene</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Abnormal foveal morphology in carriers of oculocutaneous albinism</atitle><jtitle>British journal of ophthalmology</jtitle><stitle>Br J Ophthalmol</stitle><addtitle>Br J Ophthalmol</addtitle><date>2023-08-01</date><risdate>2023</risdate><volume>107</volume><issue>8</issue><spage>1202</spage><epage>1208</epage><pages>1202-1208</pages><issn>0007-1161</issn><eissn>1468-2079</eissn><abstract>Background/aimsTo investigate the foveal morphology in carriers of oculocutaneous albinism (OCA) using spectral domain optical coherence tomography (SD-OCT). A cross-sectional, observational study.MethodsHandheld SD-OCT (Envisu C2300) was used to acquire horizontal scans through the centre of the fovea in biological parents of patients with OCA (n=28; mean age±SD=40.43±8.07 years) and age-matched and ethnicity-matched controls (n=28; mean age±SD=38.04±10.27 years). Sequence analysis was performed for variants in known genes associated with OCA. Best-corrected visual acuity (BCVA), presence of foveal hypoplasia and grade, foveal, parafoveal and perifoveal thickness measurements of total retinal layers (TRL), inner retinal layers (IRL) and outer retinal layers (ORL) thickness were measured.ResultsFoveal hypoplasia was identified in 32.14% of OCA carriers; grade 1 in all cases. OCA carriers demonstrated significant thicker TRL thickness (median difference: 13.46 µm, p=0.009) and IRL thickness (mean difference: 8.98 µm, p<0.001) at the central fovea compared with controls. BCVA of carriers was between −0.16 and 0.18 logMAR (mean: 0.0 logMAR). No significant differences in BCVA was noted between OCA carriers or controls (p=0.83). In the OCA carriers, we identified previously reported pathogenic variants in TYR, OCA2 and SLC45A2, novel OCA2 variants (n=3) and heterozygosity of the pathogenic TYR haplotype.ConclusionWe have, for the first time, identified foveal abnormalities in OCA carriers. This provides clinical value, particularly in cases where limited phenotype data are available. Our findings raise the possibility that previously reported mild cases of foveal hypoplasia or isolated foveal hypoplasia could correspond to OCA carrier status.</abstract><cop>BMA House, Tavistock Square, London, WC1H 9JR</cop><pub>BMJ Publishing Group Ltd</pub><pmid>35379600</pmid><doi>10.1136/bjophthalmol-2020-318192</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0003-3217-493X</orcidid><orcidid>https://orcid.org/0000-0002-7681-3062</orcidid><orcidid>https://orcid.org/0000-0002-4630-1234</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Albinism Albinism, Oculocutaneous - diagnosis Albinism, Oculocutaneous - genetics Albinism, Oculocutaneous - pathology Clinical Science Cross-Sectional Studies Fovea Centralis - pathology Genetic testing genetics Humans imaging macula Morphology Mutation Ophthalmology Retina Tomography, Optical Coherence - methods vision Vision Disorders - pathology Visual acuity |
| title | Abnormal foveal morphology in carriers of oculocutaneous albinism |
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