Research

Scientific Research on Dominant Blue Eye (DBE)

The understanding of Dominant Blue Eye (DBE) has changed significantly in recent years. Multiple independent studies have identified different PAX3 variants, demonstrating that DBE is not caused by a single mutation or a single biological mechanism.

This section brings together the current peer-reviewed research, helping breeders, veterinarians and researchers explore the evidence behind each discovery.

Featured Publications

2024

A PAX3 insertion in the Celestial breed and certain feline breeding lines with dominant blue eyes

Authors
Marie Abitbol et al.

Journal
Animal Genetics

Key findings

  • First description of DBE-CEL

  • FERV1 LTR insertion in intron 4

  • Non-coding regulatory variant

  • Not associated with deafness in BAER-tested heterozygous cats

Read article →

Different Founding Effects Underlie Dominant Blue Eyes (DBE) in the Domestic Cat

Authors
Marie Abitbol et al.

Journal
Animals

Key findings

  • Discovery of DBE-ALT

  • Independent origin of CEL and ALT

  • Comparison of multiple DBE lineages

  • Updated understanding of PAX3 variation

Read Article —>

PAX3 Haploinsufficiency in Maine Coon Cats with Dominant Blue Eyes and Hearing Loss Resembling the Human Waardenburg Syndrome

Authors
Rudd Garces et al.

Journal
G3

Key findings

  • Discovery of DBE-RE

  • Coding nonsense mutation

  • First association with hearing impairment

  • Comparison with human Waardenburg syndrome

Read Article —>

2025

Dominant Blue Eyes in Maine Coon Cats: New PAX3 Variant and Updated Phenotypic Data

Authors
Marie Abitbol et al.

Journal
Animal Genetics

Key findings

  • Discovery of DBE-AGO

  • Frameshift mutation in exon 2

  • Fourth identified PAX3 variant

  • Expanded understanding of DBE genetics

Read Article —>

KIT

  • David V.A. et al. (2014). Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic cats. G3: Genes|Genomes|Genetics, 4(10), 1881–1891.

  • Cvejic D. et al. (2009). Unilateral and Bilateral Congenital Sensorineural Deafness in Client-Owned Pure-Breed White Cats. Journal of Veterinary Internal Medicine, 23(2):392–395

  • Awazu A. et al. (2023). Possibilities of skin coat color-dependent risks and risk factors of squamous cell carcinoma and deafness of domestic cats inferred via RNA-seq data. Genes to Cells, 28(12), 893–905.

  • Kortas A, Rytel L, Kołecka M, Pomianowski A. Evaluation of the prevalence of congenital sensorineural deafness in a population of 72 client-owned purebred white cats examined from 2007 to 2021. BMC Veterinary Research. 2022;18:281. doi:10.1186/s12917-022-03378-2