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Published on: January 16, 2019
Clinical and molecular findings in children with retinitis pigmentosa
Cheng Li1, Chengyue Zhang1, Dayong Bai1
1Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Insights
X-linked retinitis pigmentosa (XLRP) is more common in children than adults, often presenting with severe symptoms. This study details genetic and clinical features of RP in children, identifying novel mutations and common gene types.
Area of Science:
- Ophthalmology
- Genetics
- Pediatric Medicine
Background:
- Retinitis pigmentosa (RP) is a group of inherited retinal diseases causing progressive vision loss.
- Understanding the genetic and clinical spectrum of RP in pediatric populations is crucial for early diagnosis and management.
Purpose of the Study:
- To investigate the clinical and genetic characteristics of children diagnosed with retinitis pigmentosa.
- To identify common mutations and genotypes associated with pediatric RP.
Main Methods:
- Retrospective analysis of 46 pediatric retinitis pigmentosa patients with identified pathogenic mutations.
- Comprehensive clinical examinations and genetic testing were performed.
- Genotype-phenotype correlations were analyzed.
Main Results:
- X-linked RP (XLRP) mutations were more prevalent in children than autosomal forms.
- RPGR and RP2 were the most frequent genes in XLRP.
- Novel mutations were identified in 19 out of 46 patients.
- XLRP cases presented with severe symptoms, high myopia, and early onset, often associated with frameshift mutations.
- Autosomal dominant RP (ADRP) showed milder symptoms and good visual acuity, with missense mutations.
- Autosomal recessive RP (ARRP) had intermediate severity compared to XLRP and ADRP.
Conclusions:
- XLRP is a significant cause of RP in children, characterized by early onset and severe visual impairment.
- The study expands the knowledge of mutation spectrum and genotype distribution in pediatric RP.
- Findings highlight the importance of genetic testing for precise diagnosis and potential therapeutic strategies in young RP patients.
Purpose:
To study the clinical and genetic features of a cohort of RP children.
Methods:
We identified 46 RP patients with pathogenic or likely pathogenic mutations among 96 patients with a clinical diagnosis of retinitis pigmentosa. All of the patients underwent comprehensive clinical examinations and genetic testing. A retrospective study was conducted on 46 children with retinitis pigmentosa. The genetic and clinical characteristics of children with different genotypes were analyzed.
Results:
Among the 46 children, 13 inherited X-linked gene mutations, including 9 RPGR and 4 RP2 mutations. There were 10 cases of autosomal dominant genes and 23 cases of autosomal recessive genes. XLRP accounted for a larger proportion of children, as observed in previous studies on RP. We found that RPGR genes were the most commonly mutated genes in RP children. The most frequently mutated gene was RPGR (9.3%), followed by RP2 (4.2%) and RPE65 (4.2%). Forty-six patients had mutations in 21 different genes, 19 of which were novel mutations.Most children with XLRP have a high degree of myopia, poor vision, and severe clinical symptoms. Frameshift mutations were more common in XLRP, followed by nonsense mutations. The onset of XLRP is relatively serious since childhood. Most children with ADRP have relatively good visual acuity and mild clinical symptoms, and missense mutations are common. The clinical manifestations of ARRP in children are more severe than those of ADRP in children but milder than those of XLRP in children, and missense mutations are common. The manifestations of RPE65 mutations are also severe and appear early.
Conclusions:
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.
