{"topic_id":"companion_breed_health_highlander_late_onset_photoreceptor_degeneration_cat","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_highlander_late_onset_photoreceptor_degeneration_cat\ncategory: companion-breed-health\ntitle: \"Highlander — Late-onset photoreceptor degeneration (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/highlander_late_onset_photoreceptor_degeneration_1536.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 354\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_highlander_late_onset_photoreceptor_degeneration_cat/01_companion_breed_health_highlander_late_onset_photoreceptor_degeneration_cat.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Highlander — Late-onset photoreceptor degeneration (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001244/9685/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Highlander — Late-onset photoreceptor degeneration (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Highlander (Cat)`\n- `Disorder: Late-onset photoreceptor degeneration`\n- `Mode of inheritance: Autosomal recessive`\n- `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)].`\n- `Defect: yes`\n- `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.`\n## Associated gene(s)\nDerived 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.\n- Gene: Entrez Gene ID 30037565 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- 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.\"\n\n## Evidence (references)\nDerived 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.\n- 1973. Eye diseases in two families of animals. Veterinary Medicine and Small Animal Clinician — PubMed:PMID4201466 — OMIA Phene_Article / Article\n- 1973. Hereditary retinal diseases in small animals. Veterinary Clinics of North America — PubMed:PMID4599339 — OMIA Phene_Article / Article\n- 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\n- 1989. Rhodopsin Levels and Rod-Mediated Function in Abyssinian Cats  with Hereditary Retinal Degeneration. Experimental Eye Research — PubMed:PMID2591499 — OMIA Phene_Article / Article\n- 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\n- 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\n- 1990. Retinal Degeneration in the Dog and Cat. Veterinary Clinics of North America-Small Animal Practice — OMIA Phene_Article / Article\n- 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\n- 1995. Lesion topography and new histological features in feline taurine deficiency retinopathy. Experimental Eye Research — PubMed:PMID8846845 — OMIA Phene_Article / Article\n- 1983. Hereditary progressive retinal atrophy in the Abyssinian cat. Journal of Heredity — PubMed:PMID6886375 — OMIA Phene_Article / Article\n- 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\n- 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\n- (20 additional references in OMIA)\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:611755 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:610189 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:610142 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — Highlander — Late-onset photoreceptor degeneration (hereditary; OMIA-verified breed predisposition) (retrieved 2026-08-22)"],"source":{"authority":"companion-breed-health","title":"Highlander — Late-onset photoreceptor degeneration (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/4201466/","retrieved":"2026-08-22","ref":"PMID 4201466","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":786,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}