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

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 -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.

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.