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Related Concept Videos

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Diabetic Retinopathy01:27

Diabetic Retinopathy

DefinitionDiabetic retinopathy is a microvascular complication of diabetes affecting the retinal blood vessels.Risk FactorsDiabetic retinopathy is present in almost all individuals with type 1 diabetes and more than 60% of those with type 2 diabetes after two decades of disease.The risk increases with poor glycemic control, hypertension, dyslipidemia, smoking, pregnancy, and puberty.Although cataracts and glaucoma are also more frequent in people with diabetes, retinopathy remains the leading...
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Photoreceptors and Visual Pathways

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, whereas...
Genetic Lingo01:11

Genetic Lingo

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Related Experiment Video

Updated: Jul 6, 2026

Organotypic Retinal Explant Cultures from Macaque Monkey
10:32

Organotypic Retinal Explant Cultures from Macaque Monkey

Published on: August 24, 2022

Hereditary retinal disease.

Peter Goodwin1

  • 1Philadelphia Retina Endowment Fund Fellow, Philadelphia, Pennsylvania 19105, USA. petergoodwin@verizon.net

Current Opinion in Ophthalmology
|April 15, 2008
PubMed
Summary
This summary is machine-generated.

Recent advances in diagnosing and treating hereditary retinal diseases are highlighted. Genetic testing and functional studies offer new hope for patients with conditions like retinitis pigmentosa.

Related Experiment Videos

Last Updated: Jul 6, 2026

Organotypic Retinal Explant Cultures from Macaque Monkey
10:32

Organotypic Retinal Explant Cultures from Macaque Monkey

Published on: August 24, 2022

Area of Science:

  • Ophthalmology
  • Genetics
  • Medical Research

Background:

  • Hereditary retinal diseases encompass a group of genetic disorders affecting vision.
  • Understanding the genotype-phenotype correlation is crucial for diagnosis and treatment.
  • Advances in genetic technology are transforming the study of these conditions.

Purpose of the Study:

  • To review recent progress in the diagnosis, genetic analysis, and treatment of hereditary retinal diseases.
  • To provide a guide for clinicians on genetic testing for patients.
  • To discuss potential future therapies for specific retinal disorders.

Main Methods:

  • Literature review of recent scientific publications.
  • Analysis of advancements in genetic mutation discovery and testing.
  • Examination of ongoing functional genetic studies and clinical trials.

Main Results:

  • Enhanced understanding of genotype-phenotype relationships in hereditary retinal diseases.
  • Increased efficiency in mutation discovery through advanced technology.
  • Development of readily available genetic testing for improved diagnosis.
  • Emerging functional genetic studies and clinical trials for potential treatments.

Conclusions:

  • Genetic testing is becoming more accessible, aiding in the diagnosis of hereditary retinal diseases.
  • Ongoing research and clinical trials show promise for future therapeutic interventions.
  • This review covers key hereditary retinal diseases including retinitis pigmentosa, Leber's congenital amaurosis, and others.