Simultaneous expression of two pathogenic genes in four Chinese patients affected with inherited retinal dystrophy.
Int J Ophthalmol
; 13(2): 220-230, 2020.
Article
em En
| MEDLINE
| ID: mdl-32090030
ABSTRACT
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-II1 exhibited both classical ABCA4-induced Stargardt disease (STGD) 1 and USH2A-associated RP, patient RP02-III2 exhibited both classical ABCA4-induced STGD1 and CDH23-associated RP, patient RP03-II1 exhibited both USH2A-induced autosomal recessive retinitis pigmentosa (arRP) syndrome and SNRNP200-induced autosomal dominant retinitis pigmentosa (adRP), and patient RP04-II2 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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Idioma:
En
Revista:
Int J Ophthalmol
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
China