Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients.

Abstract excerpt

Due to the genotype-phenotype heterogeneity in retinitis pigmentosa (RP), molecular diagnoses and prediction of disease progression is difficult. This study aimed to report ocular and genetic data from Korean patients with PDE6B-associated RP (PDE6B-RP), and establish genotype-phenotype correlations to predict the clinical course. We retrospectively reviewed targeted next-generation sequencing or whole exome...

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• Asian People
• Computer Simulation
• Cyclic Nucleotide Phosphodiesterases, Type 6
• Exome Sequencing
• Fundus Oculi