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Simultaneous expression of two pathogenic genes in four Chinese patients affected with inherited retinal dystrophy

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机构： [1]Department of Ophthalmology, Peking University Third Hospital, Beijing Key Laboratory of Restoration of Damaged Ocular Nerve, Beijing 100191, China [2]Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing 100730, China

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关键词： inherited retinal dystrophies Hereditary Eye Disease Enrichment Panel retinitis pigmentosa Stargardt disease two pathogenic genes

摘要：

AIM: To describe the complex, overlapping phenotype of four Chinese patients with inherited retinal dystrophies (IRDs) who harbored two pathogenic genes simultaneously. METHODS: This retrospective study included 4 patients affected with IRDs. Medical and ophthalmic histories were obtained, and clinical examinations were performed. A specific Hereditary Eye Disease Enrichment Panel (HEDEP) based on exome capture technology was used for genetic screening. RESULTS: Four patients were identified to harbor disease-causing variants in two different genes. Patient retinitis pigmentosa (RP) 01-II:1 exhibited both classical ABCA4 -induced Stargardt disease (STGD) 1 and USH2A-associated RP, patient RP02-III:2 exhibited both classical ABCA4-induced STGD1 and CDH23-associated RP, patient RP03-II:1 exhibited both USH2A-induced autosomal recessive retinitis pigmentosa (arRP) syndrome and SNRNP200-induced autosomal dominant retinitis pigmentosa (adRP), and patient RP04- II:2 exhibited USH2A-induced arRP syndrome and EYS-induced arRP at the same time. CONCLUSION: Our study demonstrates that genotype-phenotype correlations and comprehensive genetic screening is crucial for diagnosing IRDs and helping family planning for patients suffering from the disease.

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出版当年[2019]版：

大类 | 3 区医学

小类 | 3 区眼科学

最新[2023]版：

大类 | 4 区医学

小类 | 4 区眼科学

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出版当年[2018]版：

Q4 OPHTHALMOLOGY

最新[2023]版：

Q2 OPHTHALMOLOGY

影响因子： 1.9 最新[2023版] 1.8 最新五年平均 1.189 出版当年[2018版] 1.258 出版当年五年平均 1.166 出版前一年[2017版] 1.33 出版后一年[2019版]

第一作者：

第一作者机构： [1]Department of Ophthalmology, Peking University Third Hospital, Beijing Key Laboratory of Restoration of Damaged Ocular Nerve, Beijing 100191, China

通讯作者：

通讯机构： [1]Department of Ophthalmology, Peking University Third Hospital, Beijing Key Laboratory of Restoration of Damaged Ocular Nerve, Beijing 100191, China [2]Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing 100730, China [*1]Department of Ophthalmology, Peking University Third Hospital, Beijing Key Laboratory of Restoration of Damaged Ocular Nerve, Beijing 100191, China. [*2]Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China

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