Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
June 28, 2026Acta OphthalmologicaOpen Access

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

View Full Paper
Ask AI
Bookmark
Share

Authors

LWLasse WolframJBJan-Philipp BodenbenderDMDavid A. Merle

Discussion

Loading...

Member takes

Overview

Retrospective analysis characterizes clinical and genetic effects of dual-gene variants in retinitis pigmentosa, suggesting implications for diagnosis and therapy.

Key Points

  • The aim is to characterize the clinical and genetic effects of dual-gene variants in patients with retinitis pigmentosa.
  • Retrospective analysis of 10 individuals from eight families with dual-genotype constellations.
  • Ophthalmic evaluation included visual acuity, visual fields, imaging, electroretinography, and full-field stimulus testing.
  • Genetic analysis involved whole genome sequencing and long-read sequencing for variant configuration.
  • Genetic variants included CEP290, RCBTB1, ABCA4, and others, with phenotypes ranging from severe rod-cone dystrophy to mild retinitis pigmentosa.
  • Long-read sequencing revealed ABCA4 variants in cis, identifying asymptomatic carriers and guiding gene therapy eligibility.
  • Functional retinal testing showed gene-specific patterns like macular preservation in EYS-driven RP.

Cite This Study

Wolfram et al. (2026) studied this question.

synapsesocial.com/papers/6a40bb4561bb0a67205c6db7https://doi.org/10.1111/aos.70181
View Full Paper
Ask AI
Bookmark
Share

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Genetic and clinical characterization of suspected retinitis pigmentosa in a cohort of Brazilian patients2025 · 1 citations
  2. 2Genotype-phenotype correlations in retinitis pigmentosa: structural and vascular insights using OCT and OCTA2026
  3. 3Genome Wide Pleiotropic Analysis Reveals Shared Genetic Architecture and Pathological Basis Between Retinitis Pigmentosa and Relevant Ocular Comorbidities2026
  4. 4Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry2026
  5. 5The genotype-phenotype association of retinitis pigmentosa in a Chinese population: Analysis of three new cases and literature review2025