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

Title:
Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients.
Authors:
Kim YN; Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul, 05505, Republic of Korea., Song JS; Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea., Oh SH; Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea., Kim YJ; Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul, 05505, Republic of Korea., Yoon YH; Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul, 05505, Republic of Korea., Seo EJ; Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea., Seol CA; GCLabs, GCGenome, Yongin, Republic of Korea., Lee SM; GCLabs, GCGenome, Yongin, Republic of Korea., Choi JM; GCLabs, GCGenome, Yongin, Republic of Korea., Seo GH; 3billion Inc., Seoul, Republic of Korea., Keum C; 3billion Inc., Seoul, Republic of Korea., Lee BH; Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea., Lee JY; Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul, 05505, Republic of Korea. ophthalmo@amc.seoul.kr.
Source:
Scientific reports [Sci Rep] 2020 Nov 11; Vol. 10 (1), pp. 19540. Date of Electronic Publication: 2020 Nov 11.
Publication Type:
Journal Article; Research Support, Non-U.S. Gov't
Language:
English
Journal Info:
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
Imprint Name(s):
Original Publication: London : Nature Publishing Group, copyright 2011-
MeSH Terms:
Mutation*, Cyclic Nucleotide Phosphodiesterases, Type 6/*genetics , Retinitis Pigmentosa/*genetics, Adolescent ; Adult ; Aged ; Asian People/genetics ; Computer Simulation ; Female ; Fundus Oculi ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Middle Aged ; Pedigree ; Retinitis Pigmentosa/diagnostic imaging ; Retinitis Pigmentosa/pathology ; Tomography, Optical Coherence ; Exome Sequencing ; Young Adult
References:
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Substance Nomenclature:
EC 3.1.4.35 (Cyclic Nucleotide Phosphodiesterases, Type 6)
EC 3.1.4.35 (PDE6B protein, human)
Entry Date(s):
Date Created: 20201112 Date Completed: 20210506 Latest Revision: 20221207
Update Code:
20250114
PubMed Central ID:
PMC7658990
DOI:
10.1038/s41598-020-75902-z
PMID:
33177553
Database:
MEDLINE

Weitere Informationen

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 sequencing data for 305 patients with RP, and identified PDE6B-RP in 15 patients (median age, 40.0 years). Amongst these patients, ten previously reported PDE6B variants (c.1280G > A, c.1488del, c.1547T > C, c.1604T > A, c.1669C > T, c.1712C > T, c.2395C > T, c.2492C > T, c.592G > A, and c.815G > A) and one novel variant (c.712del) were identified. Thirteen patients (86.7%) experienced night blindness as the first symptom at a median age of 10.0 years. Median age at diagnosis was 21.0 years and median visual acuity (VA) was 0.20 LogMAR at the time of genetic analysis. Nonlinear mixed models were developed and analysis revealed that VA exponentially decreased over time, while optical coherence tomography parameters linearly decreased, and this was related with visual field constriction. A high proportion of patients with the c.1669C > T variant (7/9, 77.8%) had cystoid macular edema; despite this, patients with this variant did not show a higher rate of functional or structural progression. This study will help clinicians predict functional and structural progression in patients with PDE6B-RP.