A novel spot mutation leading to sialidosis type 1-myoclonus syndrome and optical coherence tomography findings
This report presents the optical coherence tomography findings and a new NEU1 mutation in bilateral macular cherry-red spot syndrome associated with sialidosis type 1. A 19-year-old patient with a macular cherry-red spot underwent metabolic and genetic analyses supported by spectral-domain optical c...
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| Veröffentlicht in: | Arquivos brasileiros de oftalmologia 2023, Vol.87 (5), p.e20220069 |
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| creator | Meşen, Selma Batur, Muhammed Ozer, Muhammet Derda |
| description | This report presents the optical coherence tomography findings and a new NEU1 mutation in bilateral macular cherry-red spot syndrome associated with sialidosis type 1. A 19-year-old patient with a macular cherry-red spot underwent metabolic and genetic analyses supported by spectral-domain optical coherence tomography. Fundus examination revealed bilateral macular cherry-red spot. Spectral-domain optical coherence tomography revealed increased hyperreflectivity in the retinal inner layers and the photoreceptor layer in the foveal region. The genetic analysis detected a new NEU1 mutation, which caused type I sialidosis. In cases with a macular cherry-red spot, sialidosis should be included in the differential diagnosis, and NEU1 mutation should be screened. Spectral-domain optical coherence tomography alone is not sufficient in the differential diagnosis because childhood metabolic diseases may exhibit similar signs. |
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A 19-year-old patient with a macular cherry-red spot underwent metabolic and genetic analyses supported by spectral-domain optical coherence tomography. Fundus examination revealed bilateral macular cherry-red spot. Spectral-domain optical coherence tomography revealed increased hyperreflectivity in the retinal inner layers and the photoreceptor layer in the foveal region. The genetic analysis detected a new NEU1 mutation, which caused type I sialidosis. In cases with a macular cherry-red spot, sialidosis should be included in the differential diagnosis, and NEU1 mutation should be screened. 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A 19-year-old patient with a macular cherry-red spot underwent metabolic and genetic analyses supported by spectral-domain optical coherence tomography. Fundus examination revealed bilateral macular cherry-red spot. Spectral-domain optical coherence tomography revealed increased hyperreflectivity in the retinal inner layers and the photoreceptor layer in the foveal region. The genetic analysis detected a new NEU1 mutation, which caused type I sialidosis. In cases with a macular cherry-red spot, sialidosis should be included in the differential diagnosis, and NEU1 mutation should be screened. Spectral-domain optical coherence tomography alone is not sufficient in the differential diagnosis because childhood metabolic diseases may exhibit similar signs.</description><subject>Diagnosis, Differential</subject><subject>Humans</subject><subject>Male</subject><subject>Mucolipidoses - complications</subject><subject>Mucolipidoses - diagnostic imaging</subject><subject>Mucolipidoses - genetics</subject><subject>Mutation</subject><subject>Neuraminidase - genetics</subject><subject>Tomography, Optical Coherence - methods</subject><subject>Young Adult</subject><issn>1678-2925</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFjksKAjEQBYMg_q8gfYEBzfjLUkTxAO4lTlqNJOmQzgi5vQq6dvU2VcXriMF8td5UUsllXwyZH7OZXCi17Il-raTarOVqIGgLgZ7ogCNl8G3W2VIAh9rYcINMwFY7a4gtQy4RYV75Qo2j0DJwCSaRR9DBAMVsG-2goTsmDA2-bU-3pOO9wNWGT5DHonvVjnHy3ZGYHvan3bGK7cWjOcdkvU7l_HtY_wVeFwlJBg</recordid><startdate>2023</startdate><enddate>2023</enddate><creator>Meşen, Selma</creator><creator>Batur, Muhammed</creator><creator>Ozer, Muhammet Derda</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><orcidid>https://orcid.org/0000-0002-3954-270X</orcidid><orcidid>https://orcid.org/0000-0002-5556-8635</orcidid><orcidid>https://orcid.org/0000-0003-3748-4646</orcidid></search><sort><creationdate>2023</creationdate><title>A novel spot mutation leading to sialidosis type 1-myoclonus syndrome and optical coherence tomography findings</title><author>Meşen, Selma ; Batur, Muhammed ; Ozer, Muhammet Derda</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-pubmed_primary_392987263</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Diagnosis, Differential</topic><topic>Humans</topic><topic>Male</topic><topic>Mucolipidoses - complications</topic><topic>Mucolipidoses - diagnostic imaging</topic><topic>Mucolipidoses - genetics</topic><topic>Mutation</topic><topic>Neuraminidase - genetics</topic><topic>Tomography, Optical Coherence - methods</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Meşen, Selma</creatorcontrib><creatorcontrib>Batur, Muhammed</creatorcontrib><creatorcontrib>Ozer, Muhammet Derda</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><jtitle>Arquivos brasileiros de oftalmologia</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Meşen, Selma</au><au>Batur, Muhammed</au><au>Ozer, Muhammet Derda</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A novel spot mutation leading to sialidosis type 1-myoclonus syndrome and optical coherence tomography findings</atitle><jtitle>Arquivos brasileiros de oftalmologia</jtitle><addtitle>Arq Bras Oftalmol</addtitle><date>2023</date><risdate>2023</risdate><volume>87</volume><issue>5</issue><spage>e20220069</spage><pages>e20220069-</pages><eissn>1678-2925</eissn><abstract>This report presents the optical coherence tomography findings and a new NEU1 mutation in bilateral macular cherry-red spot syndrome associated with sialidosis type 1. A 19-year-old patient with a macular cherry-red spot underwent metabolic and genetic analyses supported by spectral-domain optical coherence tomography. Fundus examination revealed bilateral macular cherry-red spot. Spectral-domain optical coherence tomography revealed increased hyperreflectivity in the retinal inner layers and the photoreceptor layer in the foveal region. The genetic analysis detected a new NEU1 mutation, which caused type I sialidosis. In cases with a macular cherry-red spot, sialidosis should be included in the differential diagnosis, and NEU1 mutation should be screened. Spectral-domain optical coherence tomography alone is not sufficient in the differential diagnosis because childhood metabolic diseases may exhibit similar signs.</abstract><cop>Brazil</cop><pmid>39298726</pmid><orcidid>https://orcid.org/0000-0002-3954-270X</orcidid><orcidid>https://orcid.org/0000-0002-5556-8635</orcidid><orcidid>https://orcid.org/0000-0003-3748-4646</orcidid></addata></record> |
| fulltext | fulltext |
| identifier | EISSN: 1678-2925 |
| ispartof | Arquivos brasileiros de oftalmologia, 2023, Vol.87 (5), p.e20220069 |
| issn | 1678-2925 |
| language | eng |
| recordid | cdi_pubmed_primary_39298726 |
| source | MEDLINE; IngentaConnect Free/Open Access Journals; EZB-FREE-00999 freely available EZB journals |
| subjects | Diagnosis, Differential Humans Male Mucolipidoses - complications Mucolipidoses - diagnostic imaging Mucolipidoses - genetics Mutation Neuraminidase - genetics Tomography, Optical Coherence - methods Young Adult |
| title | A novel spot mutation leading to sialidosis type 1-myoclonus syndrome and optical coherence tomography findings |
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