{"topic_id":"companion_species_health_leber_congenital_amaurosis_cat","category":"companion-species-health","context":"---\nlicense: permission_granted\ntopic_id: companion_species_health_leber_congenital_amaurosis_cat\ncategory: companion-species-health\ntitle: \"Cat (Felis catus) — Leber congenital amaurosis (hereditary; OMIA-verified species predisposition)\"\nlang: en\nsource: \"OMIA (Online Mendelian Inheritance in Animals, University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-24 from local OMIA database dump.\"\nsource_file: pdf-raw/species-health/cat_leber_congenital_amaurosis_3817.txt\ndate_parsed: 2026-08-24\ntokens_estimated: 137\nverification:\n  method: substring_match\n  claims: 4\n  passed: 4\n  date: 2026-08-24\nrecovered: false\npath: companion-species-health/companion_species_health_leber_congenital_amaurosis_cat/01_companion_species_health_leber_congenital_amaurosis_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: \"Cat (Felis catus) — Leber congenital amaurosis (hereditary; OMIA-verified species predisposition)\"\n  url: \"https://omia.org/OMIA001222/9685/\"\n  retrieved: \"2026-08-24\"\n  ref: \"OMIA species-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 (species-specific disorder entries)\"\n  needs_review: false\n\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\n# Cat (Felis catus) — Leber congenital amaurosis (hereditary; OMIA-verified species predisposition)\n\nSource: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to `source_file`; every claim below is a C1 byte-substring of it.\n\n## Claims\n\n- `Species: Cat (Felis catus)`\n- `Disorder: Leber congenital amaurosis`\n- `Mode of inheritance: Rah et al. (2005) characterised an autosomal recessive form of this disorder in Persian cats, and established a breeding colony.`\n- `Prevalence: As reported by Lyons et al. (2016): \"Over 1700 cats from 40 different breeds and populations were genotyped for the AIPL1 variant, defining an allelic frequency in only Persian -related breeds of 1.15 %\".`\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 389719983 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Lyons et al. (2016): c.577C&gt;T; a predicted p.Arg193* (omia.variant:1214)\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- 2005. Early-onset, autosomal recessive, progressive retinal atrophy in Persian cats. Invest Ophthalmol Vis Sci — PubMed:PMID15851577 | DOI:10.1167/iovs.04-1019 — OMIA Phene_Article / Article\n- 2006. Lack of genetic association among coat colors, progressive retinal atrophy and polycystic kidney disease in Persian cats. J Feline Med Surg — PubMed:PMID16777456 | DOI:10.1016/j.jfms.2006.04.002 — OMIA Phene_Article / Article\n- 2012. Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome — PubMed:PMID22065099 | DOI:10.1007/s00335-011-9361-3 — OMIA Phene_Article / Article\n- 2014. Genome-wide association and linkage analyses localize a progressive retinal atrophy locus in Persian cats. Mamm Genome — PubMed:PMID24777202 | DOI:10.1007/s00335-014-9517-z — OMIA Phene_Article / Article\n- 2016. Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7. BMC Genomics — PubMed:PMID27030474 | DOI:10.1186/s12864-016-2595-4 — OMIA Phene_Article / Article\n- 2021. A domestic cat whole exome sequencing resource for trait discovery. Sci Rep — PubMed:PMID33785770 | DOI:10.1038/s41598-021-86200-7 — OMIA Phene_Article / Article\n- 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article\n- 2024. Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals. Front Vet Sci — PubMed:PMID39703406 | DOI:10.3389/fvets.2024.1497817 — OMIA Phene_Article / Article\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:204100 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:180069 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:613794 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:618697 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-species-health — Cat (Felis catus) — Leber congenital amaurosis (hereditary; OMIA-verified species predisposition)"],"source":{"authority":"companion-species-health","title":"Cat (Felis catus) — Leber congenital amaurosis (hereditary; OMIA-verified species predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/15851577/","retrieved":"","ref":"PMID 15851577","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":824,"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."}