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Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort

Authors
 Dabin Moon  ;  Hye Won Park  ;  Dongheon Surl  ;  Dongju Won  ;  Seung-Tae Lee  ;  Saeam Shin  ;  Jong Rak Choi  ;  Jinu Han 
Citation
 GENES, Vol.13(1) : 27, 2022-01 
Journal Title
GENES
Issue Date
2022-01
MeSH
Adolescent ; Eye Abnormalities / genetics ; Eye Diseases, Hereditary / genetics* ; Eye Proteins / genetics ; Female ; Genetic Testing / methods ; High-Throughput Nucleotide Sequencing / methods ; Humans ; Male ; Mutation / genetics ; Pedigree ; Phenotype ; Precision Medicine / methods* ; Republic of Korea ; Retrospective Studies
Keywords
genetic testing ; inherited eye disease ; next-generation sequencing ; precision medicine
Abstract
In this study, we investigated medically or surgically actionable genes in inherited eye disease, based on clinical phenotype and genomic data. This retrospective consecutive case series included 149 patients with inherited eye diseases, seen by a single pediatric ophthalmologist, who underwent genetic testing between 1 March 2017 and 28 February 2018. Variants were detected using a target enrichment panel of 429 genes and known deep intronic variants associated with inherited eye disease. Among 149 patients, 38 (25.5%) had a family history, and this cohort includes heterogeneous phenotype including anterior segment dysgenesis, congenital cataract, infantile nystagmus syndrome, optic atrophy, and retinal dystrophy. Overall, 90 patients (60.4%) received a definite molecular diagnosis. Overall, NGS-guided precision care was provided to 8 patients (5.4%). The precision care included cryotherapy to prevent retinal detachment in COL2A1 Stickler syndrome, osteoporosis management in patients with LRP5-associated familial exudative vitreoretinopathy, and avoidance of unnecessary phlebotomy in hyperferritinemia-cataract syndrome. A revision of the initial clinical diagnosis was made in 22 patients (14.8%). Unexpected multi-gene deletions and dual diagnosis were noted in 4 patients (2.7%). We found that precision medical or surgical managements were provided for 8 of 149 patients (5.4%), and multiple locus variants were found in 2.7% of cases. These findings are important because individualized management of inherited eye diseases can be achieved through genetic testing.
Files in This Item:
T202200290.pdf Download
DOI
10.3390/genes13010027
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
Yonsei Authors
Shin, Saeam(신새암) ORCID logo https://orcid.org/0000-0003-1501-3923
Won, Dongju(원동주) ORCID logo https://orcid.org/0000-0002-0084-0216
Lee, Seung-Tae(이승태) ORCID logo https://orcid.org/0000-0003-1047-1415
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
Han, Jinu(한진우) ORCID logo https://orcid.org/0000-0002-8607-6625
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/187935
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