Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

The Retinoblastoma Gene

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,...

Genetic Lingo

Genetic Lingo

Genetic Screens

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Viral necrotising retinitis with frosted branch angiitis: rapid progression into bilateral combined retinal detachment - a management challenge.

BMJ case reports·2026

Same author

Unveiling the Genetic and Immunophenotypic Landscape of Chronic Lymphocytic Leukemia in Indian Cohort.

Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion·2026

Same author

Genetic Etiology in Children with Progressive Neuroregression.

Indian journal of pediatrics·2026

Same author

A correlation of Worst Pattern of Invasion (WPOI) and Tumor budding (TB) with clinicopathological factors in oral squamous cell carcinoma (OSCC).

Journal of cancer research and therapeutics·2025

Same author

Role of Sanger Sequencing in the Early Diagnosis of Infective Endophthalmitis: Experience From a Pilot Study.

Cureus·2025

Same author

Integrative blood profiling uncovers inflammatory network signatures in high-altitude pulmonary edema.

Bioscience reports·2025

Same journal

Bilateral Parotid Enlargement as an Initial Manifestation of Pediatric Acute Lymphoblastic Leukemia.

Indian journal of pediatrics·2026

Same journal

Hemorrhagic Cardiac Tamponade Due to MRSA Sepsis in a Child with Relapsed Acute Lymphoblastic Leukemia: Authors' Reply.

Indian journal of pediatrics·2026

Same journal

A Prospective Model for Detecting Missed Appendicitis in Low-Risk Pediatric Patients: Correspondence.

Indian journal of pediatrics·2026

Same journal

Serum Periostin as a Biomarker in Pediatric Asthma: Findings from a Case-Control Study - Authors' Reply.

Indian journal of pediatrics·2026

Same journal

When the Eye Peels: An Unusual Harbinger of Kawasaki Disease - Correspondence.

Indian journal of pediatrics·2026

Same journal

Pediatric Sleep-Related Laryngospasm: Cause of Nocturnal Respiratory Distress.

Indian journal of pediatrics·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Feb 21, 2026

Using an Automated Hirschberg Test App to Evaluate Ocular Alignment

Using an Automated Hirschberg Test App to Evaluate Ocular Alignment

Published on: March 24, 2020

Genetic Testing in Pediatric Ophthalmology.

Ishwar Chander Verma¹, Preeti Paliwal², Kanika Singh²

¹Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India. icverma@gmail.com.

Indian Journal of Pediatrics

|October 4, 2017

Summary

This summary is machine-generated.

Genetic testing aids in diagnosing and treating ophthalmic disorders, requiring accurate clinical diagnosis and family history. This review outlines genetic testing protocols for various eye conditions, including gene panels and whole exome sequencing.

Keywords:

Achromatopsia Anophthalmia Anterior segment dysgenesis Coloboma Color blindness Congenital cataracts Congenital glaucoma Corneal dystrophies Exome sequencing Eye disorders LHON Leber’s congenital amurosis Multi-gene testing Optic atrophy Pedigree analysis Retinitis pigmentosa Retinoblastoma Retinoshisis Utility of genetic testing

More Related Videos

An Ex Vivo Choroid Sprouting Assay of Ocular Microvascular Angiogenesis

An Ex Vivo Choroid Sprouting Assay of Ocular Microvascular Angiogenesis

Published on: August 6, 2020

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Published on: May 26, 2023

Related Experiment Videos

Last Updated: Feb 21, 2026

Using an Automated Hirschberg Test App to Evaluate Ocular Alignment

Using an Automated Hirschberg Test App to Evaluate Ocular Alignment

Published on: March 24, 2020

An Ex Vivo Choroid Sprouting Assay of Ocular Microvascular Angiogenesis

An Ex Vivo Choroid Sprouting Assay of Ocular Microvascular Angiogenesis

Published on: August 6, 2020

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Published on: May 26, 2023

Area of Science:

Ophthalmology
Genetics
Medical Diagnostics

Background:

Genetic testing is crucial for diagnosing and managing ophthalmic disorders.
Accurate diagnosis, family history, and genetic counseling are prerequisites for successful genetic testing.
Commonly tested ophthalmic conditions include anophthalmia, retinitis pigmentosa, and retinoblastoma.

Purpose of the Study:

To review the utility of genetic testing in ophthalmic disorders.
To outline a protocol for genetic testing in ophthalmology.
To discuss the availability of genetic testing in India.

Main Methods:

Review of current literature on genetic testing in ophthalmology.
Presentation of a tiered genetic testing protocol based on disorder characteristics.
Discussion of diagnostic approaches from single-gene sequencing to whole-genome studies.

Main Results:

Genetic testing offers precise diagnosis, prognosis, and facilitates genetic counseling and gene-specific therapies.
A systematic approach to genetic testing is presented, starting with common mutations and progressing to broader genomic analyses.
Most genetic tests, including advanced sequencing, are accessible in India.

Conclusions:

Genetic testing is an invaluable tool in ophthalmology for diagnosis, prognosis, and treatment.
The proposed protocol provides a structured approach to genetic testing for diverse ophthalmic conditions.
The availability of comprehensive genetic testing services in India supports its clinical application.