Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia

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...

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Main Authors: Kayo Shimizu, Akio Oishi, Maho Oishi, Ken Ogino, Satoshi Morooka, Masako Sugahara, Norimoto Gotoh, Nagahisa Yoshimura
Format: Article
Language:English
Published: Karger Publishers 2015-07-01
Series:Case Reports in Ophthalmology
Subjects:
Choroideremia
Next-generation sequencing
Utility
Diagnosis
Online Access:http://www.karger.com/Article/FullText/437348
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spelling doaj-0399c1e7c09e4d7085a32488cdda0b302020-11-24T20:59:48ZengKarger 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
collection DOAJ
language English
format Article
sources DOAJ
author Kayo Shimizu
Akio Oishi
Maho Oishi
Ken Ogino
Satoshi Morooka
Masako Sugahara
Norimoto Gotoh
Nagahisa Yoshimura
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
author_facet Kayo Shimizu
Akio Oishi
Maho Oishi
Ken Ogino
Satoshi Morooka
Masako Sugahara
Norimoto Gotoh
Nagahisa Yoshimura
author_sort Kayo Shimizu
title Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia
title_short 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_sort next-generation sequencing-based molecular diagnosis of choroideremia
publisher Karger Publishers
series Case Reports in Ophthalmology
issn 1663-2699
publishDate 2015-07-01
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.
topic Choroideremia
Next-generation sequencing
Utility
Diagnosis
url http://www.karger.com/Article/FullText/437348
work_keys_str_mv AT kayoshimizu nextgenerationsequencingbasedmoleculardiagnosisofchoroideremia
AT akiooishi nextgenerationsequencingbasedmoleculardiagnosisofchoroideremia
AT mahooishi nextgenerationsequencingbasedmoleculardiagnosisofchoroideremia
AT kenogino nextgenerationsequencingbasedmoleculardiagnosisofchoroideremia
AT satoshimorooka nextgenerationsequencingbasedmoleculardiagnosisofchoroideremia
AT masakosugahara nextgenerationsequencingbasedmoleculardiagnosisofchoroideremia
AT norimotogotoh nextgenerationsequencingbasedmoleculardiagnosisofchoroideremia
AT nagahisayoshimura nextgenerationsequencingbasedmoleculardiagnosisofchoroideremia
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