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Abyssinian — Late-onset photoreceptor degeneration (hereditary; OMIA-verified breed predisposition)

companion_breed_health_abyssinian_late_onset_photoreceptor_degeneration_cat

companion-breed-health 786 tok en 2026-08-22

--- license: permission_granted topic_id: companion_breed_health_abyssinian_late_onset_photoreceptor_degeneration_cat category: companion-breed-health title: "Abyssinian — Late-onset photoreceptor degeneration (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/abyssinian_late_onset_photoreceptor_degeneration_1536.txt date_parsed: 2026-08-02 tokens_estimated: 354 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_abyssinian_late_onset_photoreceptor_degeneration_cat/01_companion_breed_health_abyssinian_late_onset_photoreceptor_degeneration_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Abyssinian — Late-onset photoreceptor degeneration (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001244/9685/" 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

Abyssinian — Late-onset photoreceptor degeneration (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: Abyssinian (Cat)
  • Disorder: Late-onset photoreceptor degeneration
  • Mode of inheritance: Autosomal recessive
  • Clin feat: Minella et al. (2023) reported that The comparably milder phenotype of CEP290 mutant cats [compared with human patients with CEP290 mutations] is likely due to the retained production of some full-length CEP290 protein with possible functional contributions from presence of truncated protein [in cats homozygous for the splicing variant listed below (OMIA variant 384)].
  • Defect: yes
  • Prevalence: Narfström et al. (2009): A population genetic survey revealed that the rdAc allele is in moderate abundance in the Abyssinian breed in Europe and Australia. Surprisingly, homozygosity for the mutant allele was observed in a Siamese cat with ophthalmoscopic findings similar to those originally described for affected rdAc individuals. Menotti-Raymond et al. (2010) surveyed 41 cat breeds (846 individuals) to assess the incidence, frequency and clinical consequence of rdAc. The rdAc allele [OMIA variant 384] displayed widespread distribution, observed in 16/43 (37%) breeds, exhibiting a high allele frequency (∼33%) in North American and European Siamese populations. The cat sequenced to generate the Felis_catus_9.0 reference genome is homozygous for this variant.

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 30037565 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
  • OMIA molecular-genetics note: Menotti-Raymond et al. (2007) reported a causal mutation: "A single-nucleotide polymorphism was characterized in intron 50 of CEP290 (IVS50 + 9T&gt;G) [omia.variant:384] that creates a strong canonical splice donor site, resulting in a 4-bp insertion and frameshift in the mRNA transcript, with subsequent introduction of a stop codon and premature truncation of the protein."

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.

  • 1973. Eye diseases in two families of animals. Veterinary Medicine and Small Animal Clinician — PubMed:PMID4201466 — OMIA Phene_Article / Article
  • 1973. Hereditary retinal diseases in small animals. Veterinary Clinics of North America — PubMed:PMID4599339 — OMIA Phene_Article / Article
  • 1989. Morphological Findings During Retinal Development and Maturation in Hereditary Rod-Cone Degeneration in Abyssinian Cats. Experimental Eye Research — PubMed:PMID2806428 — OMIA Phene_Article / Article
  • 1989. Rhodopsin Levels and Rod-Mediated Function in Abyssinian Cats with Hereditary Retinal Degeneration. Experimental Eye Research — PubMed:PMID2591499 — OMIA Phene_Article / Article
  • 1989. Postnatal Development of Photoreceptor Proteins in Mutant Mice and Abyssinian Cats with Retinal Degeneration. Inherited and Environmentally Induced Retinal Degenerations — OMIA Phene_Article / Article
  • 1989. Retinal Sensitivity in Hereditary Retinal Degeneration in Abyssinian Cats - Electrophysiological Similarities Between Man and Cat. British Journal of Ophthalmology — PubMed:PMID2757991 — OMIA Phene_Article / Article
  • 1990. Retinal Degeneration in the Dog and Cat. Veterinary Clinics of North America-Small Animal Practice — OMIA Phene_Article / Article
  • 1995. Sequence analysis and exclusion of phosducin as the gene for the recessive retinal degeneration of the abyssinian cat. Biochimica et Biophysica Acta - Gene Structure and Expression — OMIA Phene_Article / Article
  • 1995. Lesion topography and new histological features in feline taurine deficiency retinopathy. Experimental Eye Research — PubMed:PMID8846845 — OMIA Phene_Article / Article
  • 1983. Hereditary progressive retinal atrophy in the Abyssinian cat. Journal of Heredity — PubMed:PMID6886375 — OMIA Phene_Article / Article
  • 1985. Progressive retinal atrophy in the Abyssinian cat: studies of the DC-recorded electroretinogram and the standing potential of the eye. British Journal of Ophthalmology — PubMed:PMID4016061 — OMIA Phene_Article / Article
  • 2004. Optimal discrimination of an Abyssinian cat recessive retinal degeneration: a short electroretinogram protocol is more efficient than a long one. Clin Experiment Ophthalmol — PubMed:PMID15633272 — OMIA Phene_Article / Article
  • (20 additional references in OMIA)

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:611755 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:610189 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:610142 (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."

Sources

Abyssinian — Late-onset photoreceptor degeneration (hereditary; OMIA-verified breed predisposition)
companion-breed-healthPMID 4201466retrieved 2026-08-22

Machine access

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