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

• Published in: International journal of ophthalmology 2020-02, Vol.13 (2), p.220-230
• Main Authors: Liu, Xiao-Zhen, Tao, Tian-Chang, Qi, Hong, Feng, Shan-Na, Chen, Ning-Ning, Zhao, Lin, Ma, Zhi-Zhong, Li, Gen-Lin, Yang, Li-Ping
• Format: Article
• Language: English
• Subjects: Basic Research; hereditary eye disease enrichment panel; inherited retinal dystrophies; retinitis pigmentosa; stargardt disease; two pathogenic genes
• ISSN: 2222-3959; 2227-4898
• DOI: 10.18240/ijo.2020.02.04

To describe the complex, overlapping phenotype of four Chinese patients with inherited retinal dystrophies (IRDs) who harbored two pathogenic genes simultaneously. 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. Four patients were identified to harbor disease-causing variants in two different genes. Patient retinitis pigmentosa (RP) 01-II:1 exhibited both classical -induced Stargardt disease (STGD) 1 and -associated RP, patient RP02-III:2 exhibited both classical -induced STGD1 and -associated RP, patient RP03-II:1 exhibited both -induced autosomal recessive retinitis pigmentosa (arRP) syndrome and -induced autosomal dominant retinitis pigmentosa (adRP), and patient RP04-II:2 exhibited -induced arRP syndrome and -induced arRP at the same time. 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.