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.

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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
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article

Clinical and molecular findings in children with retinitis pigmentosa

Chengyue Zhang, Yanhui Cui, Dayong Bai, Cheng Li
1 citations
Ophthalmic Genetics
Retinal Development and Disorders
0.23
article

Clinical and molecular findings in children with retinitis pigmentosa

Chengyue Zhang, Yanhui Cui, Dayong Bai, Cheng Li
article en
1 citations

Abstract

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.

Ophthalmic GeneticsVol. 45(5)
Capital Medical University (CN), Center for Children (US), Beijing Children’s Hospital (CN)
Zero hunger
Openalex Percentile: Top 43%
Retinal Development and Disorders
0.23
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