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Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients.

Genes - 21 May 2021

Kim Hyeong-Min, Joo Kwangsic, Han Jinu, Woo Se-Joon

Abstract excerpt

In this study, we investigated the clinical and genetic characteristics of 19 Korean patients with congenital stationary night blindness (CSNB) at two tertiary hospitals. Clinical evaluations, including fundus photography, spectral-domain optical coherence tomography, and electroretinography, were performed. Genetic analyses were conducted using targeted panel sequencing or whole exome sequencing. The median age...

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Identifiers

PMID: 34064005
DOI: 10.3390/genes12060789
PMCID: PMC8224030

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