Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia
We screened patients with choroideremia using next-generation sequencing (NGS) and identified a novel mutation and a known mutation in the CHM gene. One patient presented an atypical fundus appearance for choroideremia. Another patient presented macular hole retinal detachment in the left eye. The p...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Karger Publishers
2015-07-01
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| Series: | Case Reports in Ophthalmology |
| Subjects: | |
| Online Access: | http://www.karger.com/Article/FullText/437348 |
| _version_ | 1818268520583004160 |
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| author | Kayo Shimizu Akio Oishi Maho Oishi Ken Ogino Satoshi Morooka Masako Sugahara Norimoto Gotoh Nagahisa Yoshimura |
| author_facet | Kayo Shimizu Akio Oishi Maho Oishi Ken Ogino Satoshi Morooka Masako Sugahara Norimoto Gotoh Nagahisa Yoshimura |
| author_sort | Kayo Shimizu |
| collection | DOAJ |
| description | We screened patients with choroideremia using next-generation sequencing (NGS) and identified a novel mutation and a known mutation in the CHM gene. One patient presented an atypical fundus appearance for choroideremia. Another patient presented macular hole retinal detachment in the left eye. The present case series shows the utility of NGS-based screening in patients with choroideremia. In addition, the presence of macular hole in 1 of the 2 patients, together with a previous report, indicated the susceptibility of patients with choroideremia to macular hole. |
| first_indexed | 2024-12-12T20:39:48Z |
| format | Article |
| id | doaj.art-0399c1e7c09e4d7085a32488cdda0b30 |
| institution | Directory Open Access Journal |
| issn | 1663-2699 |
| language | English |
| last_indexed | 2024-12-12T20:39:48Z |
| publishDate | 2015-07-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Ophthalmology |
| spelling | doaj.art-0399c1e7c09e4d7085a32488cdda0b302022-12-22T00:12:47ZengKarger PublishersCase Reports in Ophthalmology1663-26992015-07-016224625010.1159/000437348437348Next-Generation Sequencing-Based Molecular Diagnosis of ChoroideremiaKayo ShimizuAkio OishiMaho OishiKen OginoSatoshi MorookaMasako SugaharaNorimoto GotohNagahisa YoshimuraWe screened patients with choroideremia using next-generation sequencing (NGS) and identified a novel mutation and a known mutation in the CHM gene. One patient presented an atypical fundus appearance for choroideremia. Another patient presented macular hole retinal detachment in the left eye. The present case series shows the utility of NGS-based screening in patients with choroideremia. In addition, the presence of macular hole in 1 of the 2 patients, together with a previous report, indicated the susceptibility of patients with choroideremia to macular hole.http://www.karger.com/Article/FullText/437348ChoroideremiaNext-generation sequencingUtilityDiagnosis |
| spellingShingle | Kayo Shimizu Akio Oishi Maho Oishi Ken Ogino Satoshi Morooka Masako Sugahara Norimoto Gotoh Nagahisa Yoshimura Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia Case Reports in Ophthalmology Choroideremia Next-generation sequencing Utility Diagnosis |
| title | Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia |
| title_full | Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia |
| title_fullStr | Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia |
| title_full_unstemmed | Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia |
| title_short | Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia |
| title_sort | next generation sequencing based molecular diagnosis of choroideremia |
| topic | Choroideremia Next-generation sequencing Utility Diagnosis |
| url | http://www.karger.com/Article/FullText/437348 |
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