Related Experiment Video
Updated: Nov 6, 2025
07:04
Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System
Published on: February 4, 2021
2.2K
Genetics and therapy for pediatric eye diseases
Holly Y Chen1, Ordan J Lehmann2, Anand Swaroop1
1Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, MSC0610, 6 Center Drive, Bethesda, MD 20892 USA.
Ebiomedicine
|May 11, 2021
Summary
Genetic complexities in vertebrate eye development can cause congenital disorders and late-onset blindness. This review explores advances in understanding ocular morphogenesis and potential therapeutic strategies for conditions like coloboma and glaucoma.
Area of Science:
- Ophthalmology
- Developmental Biology
- Genetics
Background:
- Ocular morphogenesis is a complex, genetically controlled process in vertebrates.
- Disruptions in ocular development lead to congenital disorders, a primary cause of childhood vision loss.
- These genetic alterations also contribute to prevalent adult-onset blinding diseases.
Purpose of the Study:
- To review recent advancements in understanding early-onset ocular disorders.
- To highlight the genetic complexities underlying eye development and associated diseases.
- To explore innovative therapeutic approaches for visual impairment.
Main Methods:
- Literature review of recent research on ocular development and genetic disorders.
- Focus on specific conditions: coloboma, congenital glaucoma, and Leber congenital amaurosis.
- Analysis of genetic factors influencing spatiotemporal control in ocular morphogenesis.
Main Results:
- Identification of key genetic programs governing ocular morphogenesis.
- Elucidation of genetic links between developmental errors and blinding diseases.
- Summary of current knowledge on the genetic basis of coloboma, congenital glaucoma, and Leber congenital amaurosis.
Conclusions:
- Understanding genetic complexities is crucial for addressing ocular disorders.
- Innovative therapeutic strategies are emerging for congenital and late-onset eye diseases.
- Further research into ocular development genetics promises improved treatments for visual impairment.
Related Concept Videos
01:11Genetic Lingo
108.9K
Overview
108.9K
00:59Gene Therapy
26.3K
Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
26.3K
01:20The Retinoblastoma Gene
4.3K
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 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,...
4.3K
01:28Human Genetics
974
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...
The complex relationship between genetics and psychology is observable through common biological components such...
974
01:27Open Angle Glaucoma: Treatment
783
In open-angle glaucoma, the iridocorneal angle remains open, but the trabecular meshwork becomes stiff, slowing down the outflow of aqueous humor. This causes a buildup of aqueous humor in the anterior chamber, leading to a sudden increase in intraocular pressure. The treatment for open-angle glaucoma focuses on reducing the elevated intraocular pressure by either decreasing the secretion of aqueous humor or increasing its outflow.
Drugs such as carbonic anhydrase inhibitors, α2- and...
Drugs such as carbonic anhydrase inhibitors, α2- and...
783
01:22Photoreceptors and Visual Pathways
7.3K
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,...
7.3K