Mouse Models of Congenital and Developmental Glaucoma in the MICRON Literature
About the MICRON Research Literature
These research pages organize published studies using MICRON imaging systems by animal species and the disease or condition investigated.
All publication counts and figures reflect the complete indexed research collection.
Explore related studies through the MICRON Research Hubs or search the complete publication collection in the reSEARCH portal.
Understanding Congenital and Developmental Glaucoma
Congenital and developmental glaucoma is glaucoma in which the pressure rise has a developmental cause: the drainage structures of the anterior chamber angle, among them the trabecular meshwork and Schlemm's canal, form abnormally, so aqueous outflow is compromised from the start rather than failing in an apparatus that developed normally.
It occurs in isolation, as primary congenital glaucoma, and as one feature of a wider anterior segment dysgenesis such as Axenfeld-Rieger syndrome. Disruption of genes that pattern the neural crest derived anterior segment is one recognized cause, and pressure elevation is also described after other developmental anomalies of the eye and after intrauterine insults including congenital infection.
The sight-threatening injury is a progressive optic neuropathy, the loss of retinal ganglion cells and their axons, with raised intraocular pressure as a risk factor that treatment can lower. An infant eye is still growing and its coats stretch, so sustained pressure enlarges the globe, the state called buphthalmos, and can break Descemet's membrane and cloud the cornea; an eye that has finished growing cannot enlarge in that way.
Congenital and Developmental Glaucoma in Experimental Research
What an animal model supplies is the developmental step itself rather than its aftermath, since where the model is genetic the gene can be disrupted from conception and the angle followed as it forms abnormally, with pressure, the optic nerve head and the inner retina then measurable in the same eye across the animal's life.
What it cannot supply is the clinical picture in a child and its management:
- Epiphora, photophobia and blepharospasm are observations made in an infant
- The surgical opening of the angle that carries much of human treatment is not what a rodent eye is used to test
- Whether pressure control in the first years of life preserves sight across a human lifetime is beyond the reach of a short-lived model
Mouse Models of Congenital and Developmental Glaucoma
The mouse carries most of this work.
Transgenic and knockout lines allow a pathway to be removed or overexpressed, and cost, availability, short generation time and a large body of background data reinforce the choice.
A genetic manipulation constrains rather than isolates a mechanism: developmental compensation and pleiotropy remain possible.
Published MICRON Research: Congenital and Developmental Glaucoma in Mice
This page lists 5 papers from the MICRON literature, published 2016 to 2024, that study congenital or developmental glaucoma in mice.
Of these publications:
- 5 studies used mice as the primary congenital or developmental glaucoma disease model.
Scope of the literature collection: Publication counts reflect studies identified and indexed in the MICRON research corpus. This collection is not intended to represent an exhaustive review of all published congenital or developmental glaucoma research.
Which imaging and experimental techniques are used in these studies?
| Technique | Papers |
|---|---|
| Optical Coherence Tomography | 4 |
| CRISPR-Based Ocular Gene Editing | 1 |
| Electroretinography | 1 |
| Topical Ophthalmic Drug Delivery | 1 |
Technique counts are paper-level co-occurrences and do not necessarily indicate that a technique was applied to the focal species or focal disease model.
Capabilities and Limitations of Imaging Techniques
A summary of what each imaging technique listed above can measure, the information it provides, and its limitations in research applications.
Optical Coherence Tomography
Optical coherence tomography provides high-resolution, cross-sectional images of ocular tissues in the living eye, allowing researchers to visualize structures at different depths. OCT is particularly useful for measuring tissue thickness, identifying structural abnormalities, and assessing the location and extent of tissue changes.
As a non-invasive imaging technique, OCT enables repeated measurements in the same eye over time, supporting longitudinal studies of disease progression and treatment response. Although OCT provides detailed structural information, it does not directly measure cellular activity or visual function. Tissue that appears structurally normal may still have functional abnormalities, making OCT a valuable companion to functional assessments such as electroretinography (ERG).
CRISPR-Based Ocular Gene Editing
Uses a programmable genome-editing system to alter DNA at an endogenous locus rather than adding a separate replacement copy. Depending on the editor and design, it can disrupt, correct or install a sequence, either therapeutically or to create an experimental model. Once a genomic sequence change is established, the edit itself cannot be withdrawn like a dose; where the edit is present from conception, the resulting phenotype also reflects its effects throughout development. Off-target sequence changes are a separate question that structural imaging does not establish.
Electroretinography
Records the retina's electrical response to light, giving component-sensitive information about outer- and inner-retinal function. It measures function directly, which no structural method does. Full-field ERG sums across the whole retina, so a small lesion can leave the trace unchanged; focal and multifocal variants trade signal amplitude for spatial resolution.
Topical Ophthalmic Drug Delivery
A compound applied as drops to the ocular surface. It is non-invasive and repeatable, so it supports frequent dosing without a procedure for each dose. What the route has to establish depends on the target: for an ocular-surface target, residence time and penetration into the surface tissue are the main barriers; for an intraocular anterior-segment target, the compound must cross ocular-surface and corneal or conjunctival barriers and reach an intraocular concentration sufficient for the experiment; for a posterior-segment target, additional ocular barriers separate the surface from the target and posterior-segment exposure is harder to establish.
Which MICRON systems and add-ons appear?
| Instrument | Papers |
|---|---|
| MICRON IV | 3 |
| Image-Guided OCT | 2 |
| MICRON III | 2 |
| Ganzfeld ERG System | 1 |
Which strains and genetic lines are used?
| Strain | Papers | Reported as |
|---|---|---|
| C57BL/6J | 4 |
What other conditions are recorded on the same papers?
| Disease | Papers |
|---|---|
| Glaucoma (General) | 5 |
| Retinal Ganglion Cell Degeneration | 4 |
| Corneal Opacity / Scarring | 2 |
| Ocular Hypertension | 2 |
| Cataract (General) | 1 |
| Corneal Neovascularization | 1 |
| Optic Neuropathy (General) | 1 |
| Primary Angle-Closure Glaucoma | 1 |
| Primary Open-Angle Glaucoma (POAG) | 1 |
Which MICRON configurations appear in this work?
Configurations recorded in these papers, and the techniques recorded alongside them.
| MICRON configuration | Papers | Most frequent techniques recorded alongside |
|---|---|---|
| MICRON IV | 3 | Optical Coherence Tomography (2), Topical Ophthalmic Drug Delivery (1) |
| Image-Guided OCT | 2 | Optical Coherence Tomography (2), Topical Ophthalmic Drug Delivery (1), CRISPR-Based Ocular Gene Editing (1) |
| MICRON III | 2 | Optical Coherence Tomography (2), CRISPR-Based Ocular Gene Editing (1), Electroretinography (1) |
| Ganzfeld ERG System | 1 |
The papers
| Year | Title | Journal | Role of focal species | MICRON products | Links |
|---|---|---|---|---|---|
| 2024 | Intergenic sequences harboring potential enhancer elements contribute to Axenfeld-Rieger syndrome by regulating PITX2. | JCI Insight | Disease model | MICRON IV | DOI · reSEARCH |
| 2021 | A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis. | Cell Death & Disease | Disease model | Image-Guided OCT, MICRON III | DOI · reSEARCH |
| 2017 | Impaired angiopoietin/Tie2 signaling compromises Schlemm's canal integrity and induces glaucoma. | The Journal of Clinical Investigation | Disease model | Ganzfeld ERG System, MICRON IV | DOI · reSEARCH |
| 2016 | Conditional deletion of AP-2β in mouse cranial neural crest results in anterior segment dysgenesis and early-onset glaucoma. | Disease Models & Mechanisms | Disease model | Image-Guided OCT, MICRON IV | DOI · reSEARCH |
| 2016 | Heterozygous Pitx2 Null Mice Accurately Recapitulate the Ocular Features of Axenfeld-Rieger Syndrome and Congenital Glaucoma. | Investigative Ophthalmology & Visual Science | Disease model | MICRON III | DOI · reSEARCH |
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