Dual corneal involvement by endothelial and epithelial corneal dystrophies in Steinert’s disease: A case of triple dystrophy
Introduction: A case of dual corneal involvement due to Fuchs endothelial corneal dystrophy and epithelial basement membrane corneal dystrophy in a patient with Steinert’s myotonic dystrophy type 1 is described, and a literature review on the triple association is made. Case description: A 52-year-o...
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| Veröffentlicht in: | European journal of ophthalmology 2021-03, Vol.31 (2), p.NP23-NP26 |
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| container_title | European journal of ophthalmology |
| container_volume | 31 |
| creator | Gargallo-Benedicto, Amparo Pérez-Torregrosa, Vicente Tomás Clemente-Tomás, Rodrigo Duch-Samper, Antonio Miguel |
| description | Introduction:
A case of dual corneal involvement due to Fuchs endothelial corneal dystrophy and epithelial basement membrane corneal dystrophy in a patient with Steinert’s myotonic dystrophy type 1 is described, and a literature review on the triple association is made.
Case description:
A 52-year-old male diagnosed with myotonic dystrophy type 1 presented due to progressive bilateral vision loss during the past year. A full ophthalmological evaluation was made, with biomicroscopy, funduscopy, anterior segment optical coherence tomography, and endothelial cell count using specular microscopy. Exploration revealed bilateral superior palpebral ptosis, visual acuity 0.5 in the right eye and 0.3 in the left eye, and with an intraocular pressure of 11 and 10 mmHg, respectively. Biomicroscopy revealed map-dot-fingerprint lesions characteristic of epithelial basement membrane corneal dystrophy in both eyes, as well as abundant endothelial guttae due to Fuchs endothelial corneal dystrophy (stage II) and bilateral nuclear and posterior subcapsular cataracts. Specular microscopy in turn showed cell loss and a destructured endothelial map. Finally, anterior segment optical coherence tomography revealed the accumulation of epithelial basement membrane and hyperreflective endothelial excrescences corresponding to guttae.
Conclusion:
The association of Fuchs endothelial corneal dystrophy with myotonic dystrophy has been described and explained by a common genetic basis in the expansion of a CTG trinucleotide repeat, though this is the first reported case of the triple association of Fuchs endothelial corneal dystrophy, epithelial basement membrane corneal dystrophy, and myotonic dystrophy type 1. New mutations or still unknown genetic alterations could possibly explain the triple association reported in our case. |
| doi_str_mv | 10.1177/1120672119872374 |
| format | Article |
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A case of dual corneal involvement due to Fuchs endothelial corneal dystrophy and epithelial basement membrane corneal dystrophy in a patient with Steinert’s myotonic dystrophy type 1 is described, and a literature review on the triple association is made.
Case description:
A 52-year-old male diagnosed with myotonic dystrophy type 1 presented due to progressive bilateral vision loss during the past year. A full ophthalmological evaluation was made, with biomicroscopy, funduscopy, anterior segment optical coherence tomography, and endothelial cell count using specular microscopy. Exploration revealed bilateral superior palpebral ptosis, visual acuity 0.5 in the right eye and 0.3 in the left eye, and with an intraocular pressure of 11 and 10 mmHg, respectively. Biomicroscopy revealed map-dot-fingerprint lesions characteristic of epithelial basement membrane corneal dystrophy in both eyes, as well as abundant endothelial guttae due to Fuchs endothelial corneal dystrophy (stage II) and bilateral nuclear and posterior subcapsular cataracts. Specular microscopy in turn showed cell loss and a destructured endothelial map. Finally, anterior segment optical coherence tomography revealed the accumulation of epithelial basement membrane and hyperreflective endothelial excrescences corresponding to guttae.
Conclusion:
The association of Fuchs endothelial corneal dystrophy with myotonic dystrophy has been described and explained by a common genetic basis in the expansion of a CTG trinucleotide repeat, though this is the first reported case of the triple association of Fuchs endothelial corneal dystrophy, epithelial basement membrane corneal dystrophy, and myotonic dystrophy type 1. New mutations or still unknown genetic alterations could possibly explain the triple association reported in our case.</description><identifier>ISSN: 1120-6721</identifier><identifier>EISSN: 1724-6016</identifier><identifier>DOI: 10.1177/1120672119872374</identifier><identifier>PMID: 31476892</identifier><language>eng</language><publisher>London, England: SAGE Publications</publisher><subject>Cogan Syndrome - diagnostic imaging ; Cogan Syndrome - etiology ; Cogan Syndrome - pathology ; Fuchs' Endothelial Dystrophy - diagnostic imaging ; Fuchs' Endothelial Dystrophy - etiology ; Fuchs' Endothelial Dystrophy - pathology ; Humans ; Intraocular Pressure ; Male ; Middle Aged ; Myotonic Dystrophy - complications ; Myotonic Dystrophy - diagnostic imaging ; Myotonic Dystrophy - pathology ; Slit Lamp Microscopy ; Tomography, Optical Coherence ; Tonometry, Ocular ; Vision Disorders - etiology ; Visual Acuity</subject><ispartof>European journal of ophthalmology, 2021-03, Vol.31 (2), p.NP23-NP26</ispartof><rights>The Author(s) 2019</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c337t-739c10ba86617a3e992690cd69f2f8c8725b9db3856ee3a4cc68bf9fa948669a3</citedby><cites>FETCH-LOGICAL-c337t-739c10ba86617a3e992690cd69f2f8c8725b9db3856ee3a4cc68bf9fa948669a3</cites><orcidid>0000-0003-1357-7944</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://journals.sagepub.com/doi/pdf/10.1177/1120672119872374$$EPDF$$P50$$Gsage$$H</linktopdf><linktohtml>$$Uhttps://journals.sagepub.com/doi/10.1177/1120672119872374$$EHTML$$P50$$Gsage$$H</linktohtml><link.rule.ids>314,776,780,21798,27901,27902,43597,43598</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31476892$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gargallo-Benedicto, Amparo</creatorcontrib><creatorcontrib>Pérez-Torregrosa, Vicente Tomás</creatorcontrib><creatorcontrib>Clemente-Tomás, Rodrigo</creatorcontrib><creatorcontrib>Duch-Samper, Antonio Miguel</creatorcontrib><title>Dual corneal involvement by endothelial and epithelial corneal dystrophies in Steinert’s disease: A case of triple dystrophy</title><title>European journal of ophthalmology</title><addtitle>Eur J Ophthalmol</addtitle><description>Introduction:
A case of dual corneal involvement due to Fuchs endothelial corneal dystrophy and epithelial basement membrane corneal dystrophy in a patient with Steinert’s myotonic dystrophy type 1 is described, and a literature review on the triple association is made.
Case description:
A 52-year-old male diagnosed with myotonic dystrophy type 1 presented due to progressive bilateral vision loss during the past year. A full ophthalmological evaluation was made, with biomicroscopy, funduscopy, anterior segment optical coherence tomography, and endothelial cell count using specular microscopy. Exploration revealed bilateral superior palpebral ptosis, visual acuity 0.5 in the right eye and 0.3 in the left eye, and with an intraocular pressure of 11 and 10 mmHg, respectively. Biomicroscopy revealed map-dot-fingerprint lesions characteristic of epithelial basement membrane corneal dystrophy in both eyes, as well as abundant endothelial guttae due to Fuchs endothelial corneal dystrophy (stage II) and bilateral nuclear and posterior subcapsular cataracts. Specular microscopy in turn showed cell loss and a destructured endothelial map. Finally, anterior segment optical coherence tomography revealed the accumulation of epithelial basement membrane and hyperreflective endothelial excrescences corresponding to guttae.
Conclusion:
The association of Fuchs endothelial corneal dystrophy with myotonic dystrophy has been described and explained by a common genetic basis in the expansion of a CTG trinucleotide repeat, though this is the first reported case of the triple association of Fuchs endothelial corneal dystrophy, epithelial basement membrane corneal dystrophy, and myotonic dystrophy type 1. New mutations or still unknown genetic alterations could possibly explain the triple association reported in our case.</description><subject>Cogan Syndrome - diagnostic imaging</subject><subject>Cogan Syndrome - etiology</subject><subject>Cogan Syndrome - pathology</subject><subject>Fuchs' Endothelial Dystrophy - diagnostic imaging</subject><subject>Fuchs' Endothelial Dystrophy - etiology</subject><subject>Fuchs' Endothelial Dystrophy - pathology</subject><subject>Humans</subject><subject>Intraocular Pressure</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Myotonic Dystrophy - complications</subject><subject>Myotonic Dystrophy - diagnostic imaging</subject><subject>Myotonic Dystrophy - pathology</subject><subject>Slit Lamp Microscopy</subject><subject>Tomography, Optical Coherence</subject><subject>Tonometry, Ocular</subject><subject>Vision Disorders - etiology</subject><subject>Visual Acuity</subject><issn>1120-6721</issn><issn>1724-6016</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kE1OwzAQhS0EoqWwZ4V8gYB_UjtmV5XyI1ViAawjx55QV2kS2WmlbBDX4HqcBFelXSCxejN68430HkKXlFxTKuUNpYwIyShVmWRcpkdoSCVLE0GoOI5ztJOtP0BnISwJYUSl7BQNOE2lyBQboo-7ta6waXwNUV29aaoNrKDucNFjqG3TLaBy0dK1xdC6_bonbB8637QLByHS-KUDV4Pvvj-_ArYugA5wiyfYRMVNiTvv2goOVH-OTkpdBbj41RF6u5-9Th-T-fPD03QyTwznskskV4aSQmdCUKk5KMWEIsYKVbIyMzH8uFC24NlYAHCdGiOyolSlVmlElOYjRHZ_jW9C8FDmrXcr7fucknxbZf63yohc7ZB2XazAHoB9d_Eg2R0E_Q75sln7Okb4_-EPbRJ-xQ</recordid><startdate>202103</startdate><enddate>202103</enddate><creator>Gargallo-Benedicto, Amparo</creator><creator>Pérez-Torregrosa, Vicente Tomás</creator><creator>Clemente-Tomás, Rodrigo</creator><creator>Duch-Samper, Antonio Miguel</creator><general>SAGE Publications</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><orcidid>https://orcid.org/0000-0003-1357-7944</orcidid></search><sort><creationdate>202103</creationdate><title>Dual corneal involvement by endothelial and epithelial corneal dystrophies in Steinert’s disease: A case of triple dystrophy</title><author>Gargallo-Benedicto, Amparo ; Pérez-Torregrosa, Vicente Tomás ; Clemente-Tomás, Rodrigo ; Duch-Samper, Antonio Miguel</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c337t-739c10ba86617a3e992690cd69f2f8c8725b9db3856ee3a4cc68bf9fa948669a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Cogan Syndrome - diagnostic imaging</topic><topic>Cogan Syndrome - etiology</topic><topic>Cogan Syndrome - pathology</topic><topic>Fuchs' Endothelial Dystrophy - diagnostic imaging</topic><topic>Fuchs' Endothelial Dystrophy - etiology</topic><topic>Fuchs' Endothelial Dystrophy - pathology</topic><topic>Humans</topic><topic>Intraocular Pressure</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Myotonic Dystrophy - complications</topic><topic>Myotonic Dystrophy - diagnostic imaging</topic><topic>Myotonic Dystrophy - pathology</topic><topic>Slit Lamp Microscopy</topic><topic>Tomography, Optical Coherence</topic><topic>Tonometry, Ocular</topic><topic>Vision Disorders - etiology</topic><topic>Visual Acuity</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gargallo-Benedicto, Amparo</creatorcontrib><creatorcontrib>Pérez-Torregrosa, Vicente Tomás</creatorcontrib><creatorcontrib>Clemente-Tomás, Rodrigo</creatorcontrib><creatorcontrib>Duch-Samper, Antonio Miguel</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><jtitle>European journal of ophthalmology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gargallo-Benedicto, Amparo</au><au>Pérez-Torregrosa, Vicente Tomás</au><au>Clemente-Tomás, Rodrigo</au><au>Duch-Samper, Antonio Miguel</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Dual corneal involvement by endothelial and epithelial corneal dystrophies in Steinert’s disease: A case of triple dystrophy</atitle><jtitle>European journal of ophthalmology</jtitle><addtitle>Eur J Ophthalmol</addtitle><date>2021-03</date><risdate>2021</risdate><volume>31</volume><issue>2</issue><spage>NP23</spage><epage>NP26</epage><pages>NP23-NP26</pages><issn>1120-6721</issn><eissn>1724-6016</eissn><abstract>Introduction:
A case of dual corneal involvement due to Fuchs endothelial corneal dystrophy and epithelial basement membrane corneal dystrophy in a patient with Steinert’s myotonic dystrophy type 1 is described, and a literature review on the triple association is made.
Case description:
A 52-year-old male diagnosed with myotonic dystrophy type 1 presented due to progressive bilateral vision loss during the past year. A full ophthalmological evaluation was made, with biomicroscopy, funduscopy, anterior segment optical coherence tomography, and endothelial cell count using specular microscopy. Exploration revealed bilateral superior palpebral ptosis, visual acuity 0.5 in the right eye and 0.3 in the left eye, and with an intraocular pressure of 11 and 10 mmHg, respectively. Biomicroscopy revealed map-dot-fingerprint lesions characteristic of epithelial basement membrane corneal dystrophy in both eyes, as well as abundant endothelial guttae due to Fuchs endothelial corneal dystrophy (stage II) and bilateral nuclear and posterior subcapsular cataracts. Specular microscopy in turn showed cell loss and a destructured endothelial map. Finally, anterior segment optical coherence tomography revealed the accumulation of epithelial basement membrane and hyperreflective endothelial excrescences corresponding to guttae.
Conclusion:
The association of Fuchs endothelial corneal dystrophy with myotonic dystrophy has been described and explained by a common genetic basis in the expansion of a CTG trinucleotide repeat, though this is the first reported case of the triple association of Fuchs endothelial corneal dystrophy, epithelial basement membrane corneal dystrophy, and myotonic dystrophy type 1. New mutations or still unknown genetic alterations could possibly explain the triple association reported in our case.</abstract><cop>London, England</cop><pub>SAGE Publications</pub><pmid>31476892</pmid><doi>10.1177/1120672119872374</doi><orcidid>https://orcid.org/0000-0003-1357-7944</orcidid></addata></record> |
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| source | SAGE Complete A-Z List; MEDLINE |
| subjects | Cogan Syndrome - diagnostic imaging Cogan Syndrome - etiology Cogan Syndrome - pathology Fuchs' Endothelial Dystrophy - diagnostic imaging Fuchs' Endothelial Dystrophy - etiology Fuchs' Endothelial Dystrophy - pathology Humans Intraocular Pressure Male Middle Aged Myotonic Dystrophy - complications Myotonic Dystrophy - diagnostic imaging Myotonic Dystrophy - pathology Slit Lamp Microscopy Tomography, Optical Coherence Tonometry, Ocular Vision Disorders - etiology Visual Acuity |
| title | Dual corneal involvement by endothelial and epithelial corneal dystrophies in Steinert’s disease: A case of triple dystrophy |
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