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

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Nondisjunction

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...

You might also read

Related Articles

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

Sort by

Same author

A novel <i>cyp26c1</i>-driven reporter line to study boundaries of retinoic acid signalling during zebrafish development.

Frontiers in cell and developmental biology·2026

Same author

Feasibility of smartphone-based digital phenotyping to measure visual function and mental health outcomes in patients with inherited retinal diseases.

NPJ digital medicine·2026

Same author

Visual acuities in patients with autosomal recessive retinitis pigmentosa associated with four rod phototransduction genes.

Eye (London, England)·2026

Same author

Synonymous editing alters ion channel function, favoring prime editing for retinal disease correction.

International journal of biological sciences·2026

Same author

Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism.

NPJ genomic medicine·2026

Same author

Using Steady-State Visual Evoked Potentials to Characterize Wide-Ranging Retinopathy Linked to <i>CRB1</i>: Implications for Clinical Trials.

Computational and structural biotechnology journal·2026

Search research articles

Related Experiment Video

Updated: Aug 19, 2025

Multi-Photon Time Lapse Imaging to Visualize Development in Real-time: Visualization of Migrating Neural Crest Cells in Zebrafish Embryos

Multi-Photon Time Lapse Imaging to Visualize Development in Real-time: Visualization of Migrating Neural Crest Cells in Zebrafish Embryos

Published on: August 9, 2017

PAX6 disease models for aniridia.

Dorsa Abdolkarimi¹, Dulce Lima Cunha², Manuela Lahne¹

¹UCL Institute of Ophthalmology, London, UK.

Indian Journal of Ophthalmology

|December 1, 2022

Summary

Aniridia, an eye disorder caused by PAX6 gene mutations, currently lacks treatment. This review examines animal and stem cell models to advance therapeutic strategies for aniridia.

Keywords:

Aniridia LESC PAX6 hiPSC primary cells retinal organoids sey mouse zebrafish

More Related Videos

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

In vivo Structural Assessments of Ocular Disease in Rodent Models using Optical Coherence Tomography

In vivo Structural Assessments of Ocular Disease in Rodent Models using Optical Coherence Tomography

Published on: July 24, 2020

Related Experiment Videos

Last Updated: Aug 19, 2025

Multi-Photon Time Lapse Imaging to Visualize Development in Real-time: Visualization of Migrating Neural Crest Cells in Zebrafish Embryos

Multi-Photon Time Lapse Imaging to Visualize Development in Real-time: Visualization of Migrating Neural Crest Cells in Zebrafish Embryos

Published on: August 9, 2017

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

In vivo Structural Assessments of Ocular Disease in Rodent Models using Optical Coherence Tomography

In vivo Structural Assessments of Ocular Disease in Rodent Models using Optical Coherence Tomography

Published on: July 24, 2020

Area of Science:

Genetics
Developmental Biology
Ophthalmology

Background:

Aniridia is a severe genetic eye disorder affecting iris and foveal development.
Current treatments for aniridia symptoms like cataracts and glaucoma are limited.
PAX6 gene mutations are the primary cause of aniridia, impacting eye development.

Purpose of the Study:

To review existing animal and cellular models of aniridia.
To highlight discoveries from these models advancing aniridia research.
To identify progress toward developing effective therapies for aniridia.

Main Methods:

Review of literature on aniridia disease models.
Analysis of studies using mouse and zebrafish models.
Evaluation of research employing human-induced pluripotent stem cells (hiPSCs).

Main Results:

Animal models (mouse, zebrafish) have provided insights into aniridia pathophysiology.
hiPSCs offer a more accurate system for studying human aniridia development.
Key discoveries from these models are paving the way for new treatments.

Conclusions:

Aniridia research heavily relies on diverse animal and cellular models.
hiPSCs represent a significant advancement for studying human eye development in aniridia.
Continued model development is crucial for achieving therapeutic breakthroughs in aniridia.