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Related Concept Videos

Genetic Lingo01:11

Genetic Lingo

Overview
Glaucoma: Overview01:25

Glaucoma: Overview

Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
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,...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...

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Related Experiment Video

Updated: May 13, 2026

Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis
13:47

Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis

Published on: June 3, 2018

Genetics for the ophthalmologist.

Karthikeyan A Sadagopan1, Jenina Capasso, Alex V Levin

  • 1Wills Eye Institute, Philadelphia, Pennsylvania, USA.

Oman Journal of Ophthalmology
|February 27, 2013
PubMed
Summary
This summary is machine-generated.

The eye is crucial in human genomics and gene therapy, being the fourth most affected organ by genetic disorders. Understanding ocular genetics aids diagnosis, management, and genetic counseling.

Keywords:
Counselingeyegeneticspedigreetesting

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Last Updated: May 13, 2026

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Area of Science:

  • Ophthalmology
  • Human Genomics
  • Medical Genetics

Background:

  • The eye is the fourth most commonly affected organ system in genetic disorders, following integument, nervous, and musculoskeletal systems.
  • Ocular genetic conditions range from single-gene defects to multifactorial etiologies.
  • The eye serves as a unique model for visualizing genetic phenomena, such as skewed X-inactivation.

Purpose of the Study:

  • To highlight the significance of the eye in human genomics and gene therapy.
  • To underscore the importance of basic genetics in clinical ophthalmology.
  • To emphasize the role of genetic principles in ocular diagnosis, management, and counseling.

Main Methods:

  • Review of historical and current genetic discoveries related to ocular diseases.
  • Analysis of the eye's unique capacity for direct visualization of genetic processes.
  • Integration of genetic concepts into ophthalmological practice.

Main Results:

  • Retinoblastoma: the first human cancer gene cloned.
  • Leber hereditary optic neuropathy: the first described mitochondrial disorder.
  • X-linked red-green color deficiency: the first described X-linked disorder.
  • Direct visualization of skewed X-inactivation in ocular albinism carriers.

Conclusions:

  • Genetics is fundamental to understanding and managing a wide spectrum of ocular disorders.
  • Ophthalmologists require a strong grasp of genetic principles for accurate diagnosis and effective patient care.
  • Genetic counseling is an integral part of managing hereditary eye conditions.