ArticleAdvances in ophthalmology practice and research
Characterizing the non-pigmented retinitis pigmentosa in a Chinese cohort: Insights into phenotype, genotype, and disease progression.
Article in Advances in ophthalmology practice and research. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Purposes: To characterize the comprehensive clinical and genetic spectrum of non-pigmented presentation of retinitis pigmentosa in a large Chinese cohort, addressing a significant knowledge gap in non-Caucasian populations. Methods: This retrospective, cross-sectional study identified and characterized 80 patients with an absence of typical pigmentation from a cohort of 1063 individuals with retinitis pigmentosa at a single tertiary center. Results: A proportion of 7.5% of the retinitis pigmentosa patients in our clinic-based cohort presented with the non-pigmented phenotype. This subgroup was characterized by a myopic shift (median spherical power: -1.00 D) and a distinct superior-to-inferior gradient of visual field defect. Survival analysis identified a critical window of accelerated functional decline between ages 34.5 and 52. Visual acuity decline was biphasic, with rates peaking within the first 5 years (0.044 logMAR/year) and after 40 years of disease (0.079 logMAR/year). Age significantly amplified the detrimental effect of disease duration on vision ( Conclusions: This study characterizes the non-pigmented presentation within the retinitis pigmentosa disease spectrum, detailing its phenotypic characteristics and natural history. The identified clinical, structural, and genetic biomarkers enable refined prognosis and inform stratified therapeutic trials.
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