--- license: permission_granted topic_id: companion_breed_health_domestic_shorthair_omia3459_cat category: companion-breed-health title: "Domestic Shorthair — Gyrate atrophy of choroid and retina (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/domestic_shorthair_omia3459_3459.txt date_parsed: 2026-08-02 tokens_estimated: 258 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_domestic_shorthair_omia3459_cat/01_companion_breed_health_domestic_shorthair_omia3459_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: "Domestic Shorthair — Gyrate atrophy of choroid and retina (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001774/9685/" 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
Domestic Shorthair — Gyrate atrophy of choroid and retina (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: Domestic Shorthair (Cat)Disorder:Mode of inheritance: Since the only known published report (Valle et al., 1981) described only one cat, there are no segregation data for this disorder in cats. Given that the cause of the disorder is an enzyme deficiency (see Clinical features below), it is reasonable to assume autosomal recessive inheritance.Clin feat: The initial report (Valle et al., 1981) described an adult male, domestic shorthaired cat of uncertain age and ancestry that . . . was presented for evaluation of suspected blindness and was found to have bilateral generalized retinal atrophy. Retinal thinning and vascular attenuation were present diffusely over both fundi. Amino-acid screening of his urine revealed ornithinuria. Consistent with this observation, Valle et al. (1981) reported undetectable levels of the enzyme ornithine aminotransferase (OAT), which is indicative of gyrate atrophy of the choroid and retina.Defect: yes
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.
- 1989. Ornithine aminotransferase distribution in ocular tissues and retinas of cat and mouse.. Invest Ophthalmol Vis Sci — PubMed:PMID2567287 — OMIA Phene_Article / Article
- 1981. Gyrate atrophy of the choroid and retina in a cat.. Invest Ophthalmol Vis Sci — PubMed:PMID7461927 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. Links this animal disorder to its human OMIM entry for comparative/translational context.
- OMIM:258870 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.
- 1989. Ornithine aminotransferase distribution in ocular tissues and retinas of cat and mouse. Invest Ophthalmol Vis Sci — PubMed:PMID2567287 — OMIA Phene_Article / Article
- 1981. Gyrate atrophy of the choroid and retina in a cat. Invest Ophthalmol Vis Sci — PubMed:PMID7461927 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. Links this animal disorder to its human OMIM entry for comparative/translational context.
- OMIM:258870 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
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.
- 1989. Ornithine aminotransferase distribution in ocular tissues and retinas of cat and mouse. Invest Ophthalmol Vis Sci — PubMed:PMID2567287 — OMIA Phene_Article / Article
- 1981. Gyrate atrophy of the choroid and retina in a cat. Invest Ophthalmol Vis Sci — PubMed:PMID7461927 — 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:258870 (type: trait) — 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."
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.
- 1989. Ornithine aminotransferase distribution in ocular tissues and retinas of cat and mouse. Invest Ophthalmol Vis Sci — PubMed:PMID2567287 — OMIA Phene_Article / Article
- 1981. Gyrate atrophy of the choroid and retina in a cat. Invest Ophthalmol Vis Sci — PubMed:PMID7461927 — 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:258870 (type: trait) — 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."
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.
- 1989. Ornithine aminotransferase distribution in ocular tissues and retinas of cat and mouse. Invest Ophthalmol Vis Sci — PubMed:PMID2567287 — OMIA Phene_Article / Article
- 1981. Gyrate atrophy of the choroid and retina in a cat. Invest Ophthalmol Vis Sci — PubMed:PMID7461927 — 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:258870 (type: trait) — 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."