Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients
| Autor: | Sae-Mi Lee, Joon Seon Song, Joo Yong Lee, You Na Kim, Eul-Ju Seo, Chang Ahn Seol, Young Hee Yoon, Changwon Keum, Seak Hee Oh, Jong-Moon Choi, Yoon Jeon Kim, Go Hun Seo, Beom Hee Lee |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Adult Male medicine.medical_specialty Visual acuity Adolescent Fundus Oculi lcsh:Medicine Diseases Genetic analysis Article 03 medical and health sciences Young Adult 0302 clinical medicine Text mining Asian People PDE6B Internal medicine Retinitis pigmentosa Exome Sequencing medicine Genetics Humans Computer Simulation lcsh:Science Macular edema Exome sequencing Aged Cyclic Nucleotide Phosphodiesterases Type 6 Multidisciplinary business.industry Disease progression lcsh:R High-Throughput Nucleotide Sequencing Middle Aged medicine.disease Pedigree 030104 developmental biology Mutation 030221 ophthalmology & optometry Female lcsh:Q medicine.symptom business Retinitis Pigmentosa Tomography Optical Coherence |
| Zdroj: | Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020) Scientific Reports |
| ISSN: | 2045-2322 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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