Autosomal dominant RP1 c.2613dupA (p.Arg872Thrfs*2) variant retinitis pigmentosa shows linear loss of the ellipsoid zone over time with highly variable phenotype.

IF 2.1 4区 医学 Q2 OPHTHALMOLOGY
Ophthalmologica Pub Date : 2025-04-01 DOI:10.1159/000545606
Nastasia Foa, Maximilian Pfau, Georg Ansari, Giuseppe Cancian, Gabriela Grimaldi, Samuel Koller, Wolfgang Berger, Pascal Escher, Lucas Janeschitz-Kriegl, Carlo Rivolta, Hendrik P N Scholl, Moreno Menghini
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引用次数: 0

Abstract

Introduction: To report the phenotype and progression pattern of RP1 retinitis pigmentosa carrying the variant c.2613dupA (p.Arg872Thrfs*2).

Methods: Retrospective chart review and prospective cohort study from 13 families with confirmed RP1 c.2613dupA (p.Arg872Thrfs*2) variant. Analysis was performed on clinical data including multimodal imaging and visual function tests. Progression rate was defined as the length of ellipsoid zone lost per year and was calculated for all patients. Linear mixed model to predict the diameter of EZ loss as a function of age was applied.

Results: 21 patients were included in the study. EZ loss in all patients ranged from 3.8 to 576.0 µm/year (median PR 76.5, IQR 97.6) in right eyes, and from 26.6 to 340.7 µm/year (median PR 96.6, IQR 70.3), in left eyes, respectively with a linear slope of progression for both eyes. The linear mixed model using age as an explanatory variable explained 25% of the variability in PR, and showed that male patients had on average a statistically significant smaller EZ diameter at baseline.

Discussion: The rate of progression of RP1 as measured by loss of EZ appears to be linear, independent of the age of onset. Furthermore, it appears that male subjects may present with earlier onset of disease as they showed a statistically significant smaller EZ diameter at baseline. Monitoring of EZ loss could be a valid clinical surrogate marker for clinical trials, but possibly sex differences and high variability of phenotypes need to be considered.

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来源期刊
Ophthalmologica
Ophthalmologica 医学-眼科学
CiteScore
5.10
自引率
3.80%
发文量
39
审稿时长
3 months
期刊介绍: Published since 1899, ''Ophthalmologica'' has become a frequently cited guide to international work in clinical and experimental ophthalmology. It contains a selection of patient-oriented contributions covering the etiology of eye diseases, diagnostic techniques, and advances in medical and surgical treatment. Straightforward, factual reporting provides both interesting and useful reading. In addition to original papers, ''Ophthalmologica'' features regularly timely reviews in an effort to keep the reader well informed and updated. The large international circulation of this journal reflects its importance.
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