Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases

J Korean Med Sci. 2019 Jun 2;34(21):e161. doi: 10.3346/jkms.2019.34.e161.


Background: Because of genetically and phenotypically heterogenous features, identification of causative genes for inherited retinal diseases (IRD) is essential for diagnosis and treatment in coming gene therapy era. To date, there are no large-scale data of the genes responsible for IRD in Korea. The aim of this study was to identify the distribution of genetic defects in IRD patients in Korea.

Methods: Medical records and DNA samples from 86 clinically diagnosed IRD patients were consecutively collected between July 2011 and May 2015. We applied the next-generation sequencing strategy (gene panel) for screening 204 known pathogenic genes associated with IRD.

Results: Molecular diagnoses were made in 38/86 (44.2%) IRD patients: 18/44 (40.9%) retinitis pigmentosa (RP), 8/22 (36.4%) cone dystrophy, 6/7 (85.7%) Stargardt disease, 1/1 (100%) Best disease, 1/1 (100%) Bardet-Biedl syndrome, 1/1 (100%) congenital stationary night blindness, 1/1 (100%) choroideremia, and 2/8 (25%) other macular dystrophies. ABCA4 was the most common causative gene associated with IRD and was responsible for causing Stargardt disease (n = 6), RP (n = 1), and cone dystrophy (n = 1). In particular, mutations in EYS were found in 4 of 14 autosomal recessive RP (29%). All cases of Stargardt disease had a mutation in the ABCA4 gene with an autosomal recessive trait.

Conclusion: This study provided the distribution of genetic mutations responsible for causing IRD in the Korean patients. This data will serve as a reference for future genetic screening and treatment for Korean IRD patients.

Keywords: Gene; Gene Panel; Inherited Retinal Disease; Korea.

MeSH terms

  • ATP-Binding Cassette Transporters / genetics
  • Exome Sequencing
  • Eye Diseases, Hereditary / genetics*
  • Eye Proteins / genetics
  • Humans
  • Mutation / genetics*
  • Republic of Korea
  • Retinal Dystrophies / genetics*


  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters
  • EYS protein, human
  • Eye Proteins