Clinical and molecular findings in children with retinitis pigmentosa
Our results revealed that XLRP gene mutations were more common in children than in adults, as observed in previous studies on RP. The proportion of RP children with ADRP is relatively small. The new findings in our study polished the spectrum of novel mutations and the proportions of different genotypes in pediatric patients. The onset of XLRP occurred earlier. The genes with a high incidence in children were all relatively severe gene types of RP. This comprehensive database may provide essential information regarding the initial stage of RP.
Authors
- Chengyue Zhang (ORCID: https://orcid.org/0000-0002-4355-122X)
- Yanhui Cui (ORCID: https://orcid.org/0000-0001-9052-848X)
- Dayong Bai (ORCID: https://orcid.org/0000-0003-1190-2539)
- Cheng Li (ORCID: https://orcid.org/0000-0001-7810-9506)
Institutions
- Capital Medical University (CN)
- Center for Children (US)
- Beijing Children’s Hospital (CN)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2024-08-29
- DOI
- https://doi.org/10.1080/13816810.2024.2357305
- Citations
- 1
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.23