--- license: permission_granted topic_id: companion_breed_health_phal_ne_omia5429_dog category: companion-breed-health title: "Phalène — Retinal atrophy, progressive, CNGB1-related (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/phal_ne_omia5429_5429.txt date_parsed: 2026-08-02 tokens_estimated: 578 verification: method: substring_match claims: 8 passed: 8 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_phal_ne_omia5429_dog/01_companion_breed_health_phal_ne_omia5429_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Phalène — Retinal atrophy, progressive, CNGB1-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002723/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false
Phalène — Retinal atrophy, progressive, CNGB1-related (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: Phalène (Dog)Disorder:Mode of inheritance: Autosomal recessiveSummary: Information presented here was initially listed under 'OMIA:000830-9615 : Retinal atrophy, progressive'. The CNGB1-related entry was created to distinguish this retinal atrophy from other variants for which the underlying genetic cause is unknown [16/06/2023]Clin feat: As reported by Ahonen et al. (2013) Papillon breed is affected with an autosomal recessive late onset PRA with a mean onset at 5.6 years of age [Hakanson and Narfstrom, 1995]. ... affected dogs have a primary loss of the rod photoreceptor cells, followed by loss of cone cell function [Narfstrom and Ekesten, 1998], [Narfstrom and Wrigstad,1999]. The first clinical signs are seen as difficulties in the dim light. The disease progress very slowly and the affected dogs seem to be visually normal throughout their life, as the cone function is fairly well preserved [Narfstrom and Ekesten, 1998], [Narfstrom and Wrigstad,1999]. The ophthalmoscopical signs include increased tapetal reflectivity and retinal vascular attenuation followed by pigment migration in the non-tapetal fundus [Hakanson and Narfstrom, 1995].Defect: yesPrevalence: As reported by Winkler et al. (2013), A population study did not identify the CNGB1 mutation in PRA-affected dogs in other breeds and documented that the CNGB1 mutation accounts for ~70% of cases of Papillon PRA in our PRA-affected canine DNA bank. Thus, there are other causal mutations (some most likely in other genes) awaiting discovery in this breed and in other breeds. As reported by Ahonen et al. (2013) a larger cohort of 145 Papillons and Phalènes [had] a carrier frequency of 17.2 %. This breed specific mutation was not present in 334 healthy dogs from 10 other breeds or 121 PRA affected dogs from 44 other breeds.Control: Petersen-Jones et al. (2019) reported that gene therapy to introduce a normal copy of canine Cngb1a into the rod photoreceptors results in robust, sustained restoration of rod function and retinal structural preservation in Cngb1–/– dogs and represents what we believe to be an important preclinical step toward gene augmentation therapy for human RP45.
Associated gene(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Gene: Entrez Gene ID 388305794 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: In a GWAS on 9 affected, 4 obligate carriers and 10 control Papillon dogs, each genotyped with the Illumina Canine HD BeadChip (yielding 116,235 informative SNPs), Winkler et al. (2013) found no significant associations. They then tried homozygosity mapping, which yielded 13 candidate regions, four of which contained likely candidate genes. Subsequent haplotype analysis and comparative clinical ph…
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 1995. Progressive retinal atrophy in papillon dogs in Sweden: A clinical survey. Vet Comp Ophthalmol — OMIA Phene_Article / Article
- 1999. Clinical, electrophysiological and morphological changes in a case of hereditary retinal degeneration in the Papillon dog. Vet Ophthalmol — PubMed:PMID11397244 | DOI:10.1046/j.1463-5224.1999.00049.x — OMIA Phene_Article / Article
- 2013. A large animal model for CNGB1 autosomal recessive retinitis pigmentosa. PLoS One — PubMed:PMID23977260 | DOI:10.1371/journal.pone.0072229 — OMIA Phene_Article / Article
- 2013. A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy. PLoS One — PubMed:PMID24015210 | DOI:10.1371/journal.pone.0072122 — OMIA Phene_Article / Article
- 2018. Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach. J Clin Invest — PubMed:PMID29202463 | DOI:10.1172/JCI95161 — OMIA Phene_Article / Article
- 2023. Development of a translatable gene augmentation therapy for CNGB1-Retinitis Pigmentosa. Mol Ther — PubMed:PMID37056049 | DOI:10.1016/j.ymthe.2023.04.005 — OMIA Phene_Article / Article
- 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article
- 2022. Development of retinal bullae in dogs with progressive retinal atrophy. Vet Ophthalmol — PubMed:PMID34708922 | DOI:10.1111/vop.12932 — OMIA Phene_Article / Article
- 2025. Gene therapy advances using canine and feline animal models of inherited retinal degeneration. Eye (Lond) — PubMed:PMID40461693 | DOI:10.1038/s41433-025-03825-y — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:613767 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:600724 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."