Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia

Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia

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We screened patients with choroideremia using next-generation sequencing (NGS) and identified a novel mutation and Inline - Parts - Inline Chassis 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 Key Fob Kit Adapter 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.