SynthesisEye (London, England)2023
Profiling of visual acuity and genotype correlations in RP2 patients: a cross-sectional comparative meta-analysis between carrier females and affected males.
Synthesis in Eye (London, England), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Secondary punctate inner choroidopathy in an RP2 associated retinopathy female carrier.Journal of ophthalmic inflammation and infection · 2026Article
- Exploration and Application of Multiluminance Mobility Test in Bietti Crystalline Dystrophy.Translational vision science & technology · 2026Article
- RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers.American journal of ophthalmology · 2024Article
- A Natural History Study ofJournal of clinical medicine · 2022Article
- Comprehensive Analysis of Transcriptional Expression of hsa-mir-21 Predicted Target Genes and Immune Characteristics in Kidney Renal Clear Cell Carcinoma.International journal of medical sciences · 2022Article
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundX-linked retinitis pigmentosa (XLRP) is the most severe form of retinitis pigmentosa (RP) and accounts for 15-20% of all RP cases. In this study, we investigated the progression of visual acuity loss across age groups in female carriers and compared it to affected males.
methodsA PubMed literature search was conducted, and RP2 cases were included based on specific inclusion criteria. Visual acuity (VA), refractive error spherical equivalent (SE), and retinal findings were recorded. Cross-sectional analyses investigated the relationship between VA and age in carrier females and affected males. Genotype-phenotype VA correlations were studied using t-tests.
results35 carrier females and 28 affected males with confirmed RP2 mutations were collected from 13 studies. The mean age and logMAR VA of carrier females were 44.2 ± 17.4 years, and 0.5 ± 0.5, respectively. 78.8% of carrier females showed abnormal XLRP-related fundus findings and had significantly reduced VA compared to those with normal fundi (0.6 ± 0.5 vs. 0.1 ± 0.1; p = 0.03). Compared to affected males, no statistical correlation was found between logMAR VA and advancing age in carrier females (p = 0.75). Statistically significant linear correlations were found between logMAR VA and SE in each of carrier females (p = 0.01). There were no observed differences in logMAR VA based on mutation type (p = 0.97) or mutation location (p = 0.83). Anisometropia was observed in 38% of carrier females and 68% of affected males; these prevalence numbers are statistically significant between the two groups (1.7 ± 0.3 vs. 3.9 ± 10.9 dioptres; p = 0.03).
conclusionsRP2 carrier females generally maintain good VA throughout their lifetime, as opposed to affected males, whose vision progressively declines. Our study provides important VA prognostic data that is crucial for patient counseling.
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