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

You might also read

Related Articles

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

Sort by

Same author

Systemic Corticosteroids in the Management of Sinonasal Disease: An Evidence-Based Expert Review.

International forum of allergy & rhinology·2026

Same author

M═CR<sub>2</sub> (M = U, Y) Diphosphonioalkylidene and U≡O Terminal Oxo Multiple Bond Interactions Encoded in <sup>13</sup>C and <sup>17</sup>O Nuclear Magnetic Resonance Chemical Shift Anisotropies: Correlations of M═C Bond Order to Chemical Shift Tensors.

Journal of the American Chemical Society·2026

Same author

Gender differences in criminal justice system involvement and associations with post-deployment factors among Post-9/11 veterans.

Health & justice·2026

Same author

Beta-Adrenergic Stimulation and <i>MYH7</i> G256E Mutant Gene Dosage Drive Hypertrophic Cardiomyopathy Phenotype Penetrance.

bioRxiv : the preprint server for biology·2026

Same author

Second Primary Malignancy Risk in Patients with Multiple Myeloma Receiving CAR T-Cell Therapy or Other Systemic Anticancer Treatments: A Real-World Comparative Study.

Clinical cancer research : an official journal of the American Association for Cancer Research·2026

Same author

Structural basis for chaperone-guided assembly of RNA-induced silencing complex.

Nature·2026

Search research articles

Related Experiment Video

Updated: Aug 5, 2025

Ultrahigh Resolution Mouse Optical Coherence Tomography to Aid Intraocular Injection in Retinal Gene Therapy Research

Ultrahigh Resolution Mouse Optical Coherence Tomography to Aid Intraocular Injection in Retinal Gene Therapy Research

Published on: November 2, 2018

Comparing Gene Panels for Non-Retinal Indications: A Systematic Review.

Rebecca Procopio¹, Jose S Pulido¹, Kammi B Gunton¹

¹Wills Eye Hospital, Philadelphia, PA 19107, USA.

|March 29, 2023

Summary

Genetic testing panels for inherited eye diseases vary significantly. Careful phenotyping and pre-test genetic hypotheses are crucial for selecting the most effective diagnostic panel.

Keywords:

anterior segment dysgenesis congenital cataract congenital glaucoma hereditary optic neuropathy inherited eye disease panel testing retinal dystrophy

More Related Videos

A Protocol for Using Gene Set Enrichment Analysis to Identify the Appropriate Animal Model for Translational Research

A Protocol for Using Gene Set Enrichment Analysis to Identify the Appropriate Animal Model for Translational Research

Published on: August 16, 2017

Development of Compendium for Esophageal Squamous Cell Carcinoma

Development of Compendium for Esophageal Squamous Cell Carcinoma

Published on: April 12, 2024

Related Experiment Videos

Last Updated: Aug 5, 2025

Ultrahigh Resolution Mouse Optical Coherence Tomography to Aid Intraocular Injection in Retinal Gene Therapy Research

Ultrahigh Resolution Mouse Optical Coherence Tomography to Aid Intraocular Injection in Retinal Gene Therapy Research

Published on: November 2, 2018

A Protocol for Using Gene Set Enrichment Analysis to Identify the Appropriate Animal Model for Translational Research

A Protocol for Using Gene Set Enrichment Analysis to Identify the Appropriate Animal Model for Translational Research

Published on: August 16, 2017

Development of Compendium for Esophageal Squamous Cell Carcinoma

Development of Compendium for Esophageal Squamous Cell Carcinoma

Published on: April 12, 2024

Area of Science:

Ophthalmology
Genetics
Molecular Biology

Background:

Genetic testing options for inherited eye diseases are expanding.
Gene panels for conditions like optic atrophy, cataracts, and glaucoma differ in content and coverage.

Approach:

A systematic review identified genetic testing panels for various ocular phenotypes using Concert Genetics and laboratory websites.
Ophthalmic panels were compared to highlight differences and similarities for clinical decision-making.

Key Points:

Genetic testing panels for inherited eye diseases are not standardized.
Understanding the specific genetic basis of an eye condition is vital for choosing the right panel.
Phenotypic characterization aids in predicting genotypes and guiding panel selection.

Conclusions:

The increasing availability and diagnostic yield of genetic testing necessitate informed panel selection.
Clinicians should consider patient phenotyping and pre-test genetic hypotheses when choosing a genetic testing panel for ocular conditions.