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Related Concept Videos

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At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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Related Experiment Video

Updated: May 7, 2025

A Rhodopsin Transport Assay by High-Content Imaging Analysis
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Syndromic retinitis pigmentosa.

Jessica S Karuntu1, Hind Almushattat2, Xuan-Thanh-An Nguyen1

  • 1Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands.

Progress in Retinal and Eye Research
|December 29, 2024
PubMed
Summary
This summary is machine-generated.

Syndromic retinitis pigmentosa (RP) involves vision loss and other symptoms. This review covers RP syndromes, their causes, and management, aiding diagnosis and treatment.

Keywords:
Inherited retinal degenerationPeroxisomal disordersRetinaRetinitis pigmentosaRod-cone dystrophySyndrome

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Area of Science:

  • Ophthalmology
  • Genetics
  • Medical Syndromes

Background:

  • Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy affecting photoreceptors.
  • 20-30% of RP patients have associated extra-ocular manifestations, forming syndromic RP.
  • Syndromic RP presents a diagnostic challenge due to its diverse genetic and clinical landscape.

Purpose of the Study:

  • To provide a comprehensive overview of syndromes associated with retinitis pigmentosa.
  • To discuss pathogenic mechanisms, clinical features, and diagnostic approaches for syndromic RP.
  • To outline current clinical management strategies and future therapeutic perspectives.

Main Methods:

  • Literature review and synthesis of current knowledge on syndromic RP.
  • Categorization of RP syndromes into ciliopathies, inherited metabolic disorders, mitochondrial disorders, and miscellaneous categories.
  • Discussion of specific syndromes within each category, including Usher syndrome, Bardet-Biedl syndrome, and various metabolic and mitochondrial conditions.

Main Results:

  • Syndromic RP encompasses a wide range of genetic disorders.
  • Key categories include ciliopathies (e.g., Usher, Bardet-Biedl), metabolic disorders, and mitochondrial disorders.
  • Accurate diagnosis is crucial for effective management and prognostication.

Conclusions:

  • Timely diagnosis of syndromic RP is essential for patient care.
  • Understanding the diverse causes of syndromic RP informs management and research.
  • Ongoing clinical trials offer hope for novel treatments for syndromic RP.