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

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases

• Kim MS
• Joo K
• Seong MW
• Kim MJ
• Park KH
• Park SS
• Woo SJ

• KMID: 2456270
• DOI: http://doi.org/10.3346/jkms.2019.34.e161

Abstract

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.

Keyword

Gene; Gene Panel; Inherited Retinal Disease; Korea

MeSH Terms

Bardet-Biedl Syndrome
Choroideremia
Diagnosis
DNA
Genetic Testing
Genetic Therapy
Humans
Korea
Macular Degeneration
Mass Screening
Medical Records
Night Blindness
Retinal Diseases*
Retinaldehyde*
Retinitis Pigmentosa
Vitelliform Macular Dystrophy
DNA
Retinaldehyde