Rhodesian Ridgeback — Early onset adult deafness (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_rhodesian_ridgeback_early_onset_adult_deafness_dog category: companion-breed-health title: "Rhodesian Ridgeback — Early onset adult deafness (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/rhodesian_ridgeback_early_onset_adult_deafness_4956.txt date_parsed: 2026-08-02 tokens_estimated: 306 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_rhodesian_ridgeback_early_onset_adult_deafness_dog/01_companion_breed_health_rhodesian_ridgeback_early_onset_adult_deafness_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: "Rhodesian Ridgeback — Early onset adult deafness (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002550/9615/" 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

Rhodesian Ridgeback — Early onset adult deafness (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: Rhodesian Ridgeback (Dog)
• Disorder: Early onset adult deafness
• Mode of inheritance: Autosomal recessive
• Clin feat: Kawakami et al. (2022): Rhodesian Ridgebacks exhibit a progressive postnatal deafness which may be observed as early as four months of age but more commonly observed within 1–2 years after birth . . . . This form of deafness, hereafter referred to as early onset adult deafness (EOAD), does not appear to be restricted to a specific bloodline because it has been identified in multiple Rhodesian Ridgeback populations, including North America, Europe, and Africa. . . . All affected dogs are visually indistinguishable from dogs with normal hearing by having fully pigmented coat, eyes, and noses, indicating that EOAD in Rhodesian Ridgebacks likely has a different genetic basis from pigmentation-related deafness. In their 2022 study, Kawakami et al. identified 23 EOAD-affected Rhodesian Ridgebacks (11 males and 12 females) that were confirmed deaf by BAER testing; these dogs lost their hearing approximately from 6 months to 24 months after birth. All of the dogs were bilaterally deaf.
• Defect: yes

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 389509222 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Using "targeted Sanger sequencing analysis" of the CFA18 candidate region, Kawakami et al. (2022) "identified a 12-bp inframe deletion in EPS8L2 (CFA18:25,868,739-25,868,751 in the UMICH_Zoey_3.1/canFam5 reference genome build). Additional genotyping confirmed a strong association between the 12-bp deletion and EOAD, where all affected dogs were homozygous for the deletion, while none of the contr…

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.

• 2012. Canine deafness. Vet Clin North Am Small Anim Pract — PubMed:PMID23122177 | DOI:10.1016/j.cvsm.2012.08.010 — OMIA Phene_Article / Article
• 2015. The genetics of deafness in domestic animals. Front Vet Sci — PubMed:PMID26664958 | DOI:10.3389/fvets.2015.00029 — OMIA Phene_Article / Article
• 2022. Early onset adult deafness in the Rhodesian Ridgeback dog is associated with an in-frame deletion in the EPS8L2 gene. PLoS One — PubMed:PMID35385474 | DOI:10.1371/journal.pone.0264365 — OMIA Phene_Article / Article
• 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — 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:617637 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:614988 (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."