Mouse Models of Enhanced S-Cone Syndrome 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 Enhanced S-Cone Syndrome

Enhanced S-cone syndrome follows loss of function in NR2E3, a transcription factor that suppresses the short-wavelength cone program during photoreceptor development.

The retina that results carries an excess of S cones at the expense of rods, giving night blindness from early life and an electroretinogram with a large, slow short-wavelength response and little or no rod response. Goldmann-Favre is the severe end of the same spectrum, adding retinoschisis and vitreoretinal change.

Enhanced S-Cone Syndrome in Experimental Research

Mouse lines reproduce the developmental mechanism:

• The Nr2e3 rd7 mouse carries a naturally occurring Nr2e3 mutation, makes excess S cones and develops dysplastic photoreceptor lesions
• Nrl-null mice show a related conversion of rods towards an S-cone identity

What a species without a macula cannot supply is the macular part of the human picture: cystoid maculopathy needs a macula, and foveoschisis needs a foveal pit within one, so a species with neither can show neither.

This cohort is read out electroretinographically and structurally.

Mouse Models of Enhanced S-Cone Syndrome

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: Enhanced S-Cone Syndrome in Mice

This page lists 3 papers from the MICRON literature, published 2018 to 2021, that study enhanced S-cone syndrome or Goldmann-Favre syndrome in mice.

Of these publications:

• 3 studies used mice as the primary enhanced S-cone syndrome or Goldmann-Favre syndrome 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 enhanced S-cone syndrome or Goldmann-Favre syndrome 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.

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).

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.

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.