Mouse Models of Familial Exudative Vitreoretinopathy 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 Familial Exudative Vitreoretinopathy

Familial exudative vitreoretinopathy is an inherited disorder of retinal vascular development, recognized clinically by incomplete peripheral retinal vascularization in a pattern not explained by retinopathy of prematurity or another acquired cause. Family history and pathogenic variants in the Norrin/beta-catenin pathway support the diagnosis but are not required, because family history can be negative and a proportion of patients have no identified mutation.

Pathway genes in which causative variants have been reported include:

• NDP
• FZD4
• LRP5
• TSPAN12

Dominant, recessive and X-linked forms have been described.

What follows from the avascular periphery is a spectrum rather than one presentation: an asymptomatic avascular crescent found on angiography at one end, and at the other exudation, peripheral neovascularization, dragging of the retina and tractional detachment in infancy, with severity differing between members of a single family.

Familial Exudative Vitreoretinopathy in Experimental Research

In the mouse the retinal vasculature forms after birth, spreading from the optic disc across the superficial retina before the deeper plexuses are built, so disrupting this pathway in the germline perturbs the developmental event itself, giving delayed or incomplete vascular extension, sparse deep plexuses and a blood-retina barrier that leaks, on a known schedule in an eye that can be imaged and injected repeatedly, and it supports a direct test of whether restoring pathway signaling restores the vasculature and the barrier.

What such a model does not supply is the human course:

• The mouse has no macula, so the macular dragging and ectopia recognized as a cause of visual loss in patients have no counterpart here
• An inbred line does not reproduce the variable expressivity seen within one family
• Where the model is a knockout, the perturbation is stronger than the heterozygous missense alleles many patients carry

Retained hyaloid vessels, dysplastic retinal folds and an incompletely vascularized periphery are shared with other developmental vitreoretinopathies and with the vasculopathy of the preterm retina, and those shared features do not by themselves settle where one of these entities ends and another begins.

Mouse Models of Familial Exudative Vitreoretinopathy

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: Familial Exudative Vitreoretinopathy in Mice

This page lists 3 papers from the MICRON literature, published 2016 to 2025, that study familial exudative vitreoretinopathy in mice.

Of these publications:

• 3 studies used mice as the primary familial exudative vitreoretinopathy 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 familial exudative vitreoretinopathy research.

Which imaging and experimental techniques are used in these studies?

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.

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.

Fundus Fluorescein Angiography

Fundus fluorescein angiography uses an injected fluorescent dye to visualize blood flow through the retinal and choroidal circulation. Sequential images show how vessels fill, identify areas of reduced or absent perfusion, and reveal dye leakage associated with vascular abnormalities.

This technique is particularly useful for evaluating vascular perfusion, blood-retinal barrier integrity, and abnormal vessel growth. Fluorescein angiography primarily shows dye distribution rather than the surrounding retinal tissue. It provides a two-dimensional (en face) view in which vessels at different depths may overlap. Cross-sectional and cellular structural details require other imaging methods, such as optical coherence tomography (OCT) or optical coherence tomography angiography (OCT-A). Vascular abnormalities that do not affect dye filling or produce leakage may also remain undetected.

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).

Intravitreal Injection / Delivery

Injection into the vitreous places a substance directly into the vitreous at a known administered dose and chosen time, reducing but not eliminating systemic exposure. The injectate may be a therapeutic compound, cell preparation or viral vector, or an agent used to create the model, such as a toxin, vasoactive or excitotoxic compound, or infectious inoculum. The route bypasses surface-delivery barriers and provides direct access to the vitreous and posterior segment, but the concentration reached in a particular ocular tissue depends on distribution and clearance and is not fixed by the injected dose alone. It is invasive and discrete: each repeat dose or challenge requires another injection, and vehicle- or sham-injected controls can help separate effects of the injectate from effects of the procedure.

Laser Photocoagulation Models

A laser lesion provokes a reproducible, quantifiable injury at a known time and place. Wavelength, power, duration, spot size, pulse mode, focus and lesion location together determine the injury produced, allowing laser exposure to be configured for different experimental endpoints. It is an induced injury, not the disease: it produces a lesion directly, bypassing the process that gives rise to comparable damage in patients.

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?

Which strains and genetic lines are used?

What other conditions are recorded on the same papers?

Which MICRON configurations appear in this work?

Configurations recorded in these papers, and the techniques recorded alongside them.

The papers

Browse all hubs at MICRON Research Hubs. The full corpus is searchable in the reSEARCH portal.