This finding, published in the journal Investigative Ophthalmology & Visual Science, is crucial for improving the reliability of scientific experiments, ensuring that observed visual alterations are not mistaken for effects of diseases, treatments, or interventions being studied.
The study analyzed 205 albino Swiss CD-1 mice, of which 126 presented visual problems. A loss of function in the cones, cells responsible for daytime vision and color distinction, was detected. In 2.4% of the animals, the retinal dysfunction was severe, also affecting the rods (low-light vision cells) and was compatible with blindness.
The identified cause is a mutation in the Gnat2 gene, essential for cones to convert light into electrical signals. Alterations in this gene are associated with achromatopsia, a rare disease that hinders color perception and can cause reduced visual acuity and high light sensitivity.
Researchers emphasize that the presence of these unnoticed visual disabilities in research mice can lead to misinterpretations of performance in behavioral tests, affecting the validity of the results.
Analysis of retinal tissue also revealed neuroinflammation, neuron death, and alterations in the blood vessel network in affected mice. These findings, which also involve the University of Alcalá, highlight the importance of verifying the visual function and genetic characteristics of animals before their use in research. Furthermore, these mice could be used to study achromatopsia.




