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Updated: May 5, 2026

A Rhodopsin Transport Assay by High-Content Imaging Analysis
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Syndromic Retinitis Pigmentosa: A Narrative Review.

Márta Janáky1, Gábor Braunitzer2

  • 1Department of Ophthalmology, Szent-Györgyi Albert Medical School, University of Szeged, 6720 Szeged, Hungary.

Vision (Basel, Switzerland)
|January 23, 2025
PubMed
Summary

Syndromic retinitis pigmentosa (RP) involves inherited eye conditions with systemic symptoms. Early recognition through genetic and clinical profiles aids diagnosis and multidisciplinary care for better patient outcomes.

Keywords:
genetic mutationsinherited retinal dystrophiesmultidisciplinary caresyndromic retinitis pigmentosasystemic syndromes

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Area of Science:

  • Ophthalmology
  • Genetics
  • Medical Syndromes

Background:

  • Retinitis pigmentosa (RP) can be an isolated ocular condition or part of syndromic RP, affecting other organs.
  • Syndromic RP complicates diagnosis and management due to multi-system involvement.

Purpose of the Study:

  • To review key systemic syndromes associated with RP, including Usher, Bardet-Biedl, and Alström syndromes.
  • To provide insights into genetic mutations, inheritance patterns, and clinical manifestations of syndromic RP.
  • To support early recognition and effective management of syndromic RP by healthcare professionals.

Main Methods:

  • Literature review focusing on genetic mutations, inheritance, and clinical symptoms of RP-associated systemic syndromes.
  • Analysis of diagnostic indicators, including ocular signs (nystagmus, congenital cataracts) and systemic symptoms.
  • Discussion of the need for multidisciplinary collaboration and emerging genetic therapies.

Main Results:

  • Identified Usher, Bardet-Biedl, and Alström syndromes as key examples of syndromic RP.
  • Highlighted ocular signs that may indicate underlying systemic disease, necessitating genetic testing.
  • Emphasized that systemic symptoms may warrant ophthalmological examination even without initial visual complaints.

Conclusions:

  • Understanding the genetic and clinical profiles of syndromic RP is crucial for accurate diagnosis and management.
  • Multidisciplinary collaboration is essential for optimizing patient care in syndromic RP.
  • Emerging genetic therapies show promise but require further investigation for efficacy in treating both ocular and systemic symptoms.