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September 10, 2025CureusOpen Access

Retinitis Pigmentosa in a Patient With a Homozygous Mutation in the RBP3 Gene: A Case Report

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Authors

AAAngel Aguayo-MerlyNINatalio Izquierdo

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Overview

Case report reveals a homozygous mutation in the RBP3 gene causing retinitis pigmentosa, suggesting genetic testing's critical role.

Key Points

  • This case highlights a previously unreported homozygous mutation in the RBP3 gene linked to retinitis pigmentosa.
  • Ophthalmic evaluations revealed symptoms of night blindness and progressive vision loss, indicating advanced retinitis pigmentosa.
  • Genetic testing confirmed the RBP3 mutation's pathogenicity, underscoring the significance of genetic analysis in retinal dystrophies.
  • Results suggest a need for further exploration of RBP3-related retinal conditions and their implications for patients.

Cite This Study

Aguayo-Merly et al. (2025) studied this question.

synapsesocial.com/papers/68c1ad6a54b1d3bfb60e5bdfhttps://doi.org/10.7759/cureus.88992
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Also Consider

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

  1. 1A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization2026
  2. 2Case Report: novel GUCA1B and ABHD12 mutations in retinitis pigmentosa sine pigmento: expanding the genotypic spectrum through multimodal phenotyping2025 · 2 citations
  3. 3Challenges in Managing Retinitis Pigmentosa: A Case Report and Review of Current Literature2025 · 1 citations
  4. 4Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa2025
  5. 5The genotype-phenotype association of retinitis pigmentosa in a Chinese population: Analysis of three new cases and literature review2025