Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature
A 3-year-old boy presented with acute corneal hydrops on the left eye and spontaneous corneal rupture on the right eye. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis. A novel mutation, the homozygous variant c.17T>G, p.V6G, was found in the gene for PR-domain-containi...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Ophthalmological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2015/637084 |
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| author | Georgia Avgitidou Sebastian Siebelmann Bjoern Bachmann Juergen Kohlhase Ludwig M. Heindl Claus Cursiefen |
| author_facet | Georgia Avgitidou Sebastian Siebelmann Bjoern Bachmann Juergen Kohlhase Ludwig M. Heindl Claus Cursiefen |
| author_sort | Georgia Avgitidou |
| collection | DOAJ |
| description | A 3-year-old boy presented with acute corneal hydrops on the left eye and spontaneous corneal rupture on the right eye. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis. A novel mutation, the homozygous variant c.17T>G, p.V6G, was found in the gene for PR-domain-containing protein 5 (PRDM5) in exon 1. Brittle cornea syndrome is a rare connective tissue disease with typical ocular, auditory, musculoskeletal, and cutaneous disorders. Almost all patients suffer from declined vision due to corneal scarring, thinning, and rupture. The most common ophthalmologic findings include keratoconus, progressive central corneal thinning, high myopia, irregular astigmatism, retinal detachment, and high risk for spontaneous corneal or scleral rupture. In addition to describing the case with a novel mutation here we review the current literature on brittle cornea syndrome pathogenesis, clinical findings, and therapy. |
| format | Article |
| id | doaj-art-8ad0e8b38a6645d79bfff4ec97eda4cc |
| institution | Kabale University |
| issn | 2090-6722 2090-6730 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Ophthalmological Medicine |
| spelling | doaj-art-8ad0e8b38a6645d79bfff4ec97eda4cc2025-08-20T03:37:33ZengWileyCase Reports in Ophthalmological Medicine2090-67222090-67302015-01-01201510.1155/2015/637084637084Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the LiteratureGeorgia Avgitidou0Sebastian Siebelmann1Bjoern Bachmann2Juergen Kohlhase3Ludwig M. Heindl4Claus Cursiefen5Department of Ophthalmology, University of Cologne, 50937 Cologne, GermanyDepartment of Ophthalmology, University of Cologne, 50937 Cologne, GermanyDepartment of Ophthalmology, University of Cologne, 50937 Cologne, GermanyCenter for Human Genetics, 79100 Freiburg, GermanyDepartment of Ophthalmology, University of Cologne, 50937 Cologne, GermanyDepartment of Ophthalmology, University of Cologne, 50937 Cologne, GermanyA 3-year-old boy presented with acute corneal hydrops on the left eye and spontaneous corneal rupture on the right eye. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis. A novel mutation, the homozygous variant c.17T>G, p.V6G, was found in the gene for PR-domain-containing protein 5 (PRDM5) in exon 1. Brittle cornea syndrome is a rare connective tissue disease with typical ocular, auditory, musculoskeletal, and cutaneous disorders. Almost all patients suffer from declined vision due to corneal scarring, thinning, and rupture. The most common ophthalmologic findings include keratoconus, progressive central corneal thinning, high myopia, irregular astigmatism, retinal detachment, and high risk for spontaneous corneal or scleral rupture. In addition to describing the case with a novel mutation here we review the current literature on brittle cornea syndrome pathogenesis, clinical findings, and therapy.http://dx.doi.org/10.1155/2015/637084 |
| spellingShingle | Georgia Avgitidou Sebastian Siebelmann Bjoern Bachmann Juergen Kohlhase Ludwig M. Heindl Claus Cursiefen Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature Case Reports in Ophthalmological Medicine |
| title | Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature |
| title_full | Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature |
| title_fullStr | Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature |
| title_full_unstemmed | Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature |
| title_short | Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature |
| title_sort | brittle cornea syndrome case report with novel mutation in the prdm5 gene and review of the literature |
| url | http://dx.doi.org/10.1155/2015/637084 |
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