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: | 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: | |
Online Access: | http://www.karger.com/Article/FullText/437348 |
Similar Items
-
Blood-aqueous Barrier Function in a Patient With Choroideremia
by: Muh-Shy Chen, et al.
Published: (2010-02-01) -
Choroideremia with Mutation in CHM Gene. Clinical Cases with Literature Review
by: I. V. Zolnikova, et al.
Published: (2019-03-01) -
Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses
by: Feng-Juan Gao, et al.
Published: (2020-06-01) -
Outcome of Full-Thickness Macular Hole Surgery in Choroideremia
by: Mays Talib, et al.
Published: (2017-07-01) -
Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia
by: Rajani Battu, et al.
Published: (2016-01-01)