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...

Full description

Bibliographic Details
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

Internet

http://www.karger.com/Article/FullText/437348

Similar Items