--- license: permission_granted topic_id: companion_breed_health_siamese_omia3875_cat category: companion-breed-health title: "Siamese — Glaucoma 3, primary congenital (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/siamese_omia3875_3875.txt date_parsed: 2026-08-02 tokens_estimated: 199 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_siamese_omia3875_cat/01_companion_breed_health_siamese_omia3875_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: "Siamese — Glaucoma 3, primary congenital (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002017/9685/" 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
Siamese — Glaucoma 3, primary congenital (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: Siamese (Cat)Disorder:Mode of inheritance: Autosomal recessiveClin feat: Kuehn et al. (2016): Elevated intraocular pressure, globe enlargement and elongated ciliary processes were consistently observed in all affected cats by 8 weeks of age. Varying degrees of optic nerve damage resulted by 6 months of age. Although subtle lens zonular instability was a common feature in this cohort, pronounced ectopia lentis was identified in less than 10% of cats examined.Defect: yesPathology: Kuehn et al. (2016): glaucoma in this pedigree is attributed to histologically confirmed arrest in the early post-natal development of the aqueous humor outflow pathways in the anterior segment of the eyes of affected animals.
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 389715685 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Kuehn et al. (2016): "A 4 base-pair insertion was identified in exon 8 [at chrB3: 120995236, omia.variant:610] of LTBP2 in affected individuals that generates a frame shift that completely alters the downstream open reading frame and eliminates functional domains".
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. Retinal intrinsic optical signals in a cat model of primary congenital glaucoma. Invest Ophthalmol Vis Sci — PubMed:PMID22395886 | DOI:10.1167/iovs.11-8299 — OMIA Phene_Article / Article
- 2011. Removal of potentially confounding phenotypes from a Siamese-derived feline glaucoma breeding colony. Comp Med — PubMed:PMID21819695 — OMIA Phene_Article / Article
- 2016. A mutation in LTBP2 causes congenital glaucoma in domestic cats (Felis catus). PLoS One — PubMed:PMID27149523 | DOI:10.1371/journal.pone.0154412 — OMIA Phene_Article / Article
- 1995. Congenital glaucoma in the Siamese cat—a novel spontaneous animal model for glaucoma research (abstract). Investigative Ophthalmology & Visual Science — OMIA Phene_Article / Article
- 2016. Correction: A mutation in LTBP2 causes congenital glaucoma in domestic cats (Felis catus). PLoS One — PubMed:PMID27537365 | DOI:10.1371/journal.pone.0161517 — OMIA Phene_Article / Article
- 2023. Aqueous humor TGF-β2 and its association with intraocular pressure in a naturally occurring large animal model of glaucoma. Invest Ophthalmol Vis Sci — PubMed:PMID37459065 | DOI:10.1167/iovs.64.10.18 — OMIA Phene_Article / Article
- 2023. Exclusion of previously described variant in LTBP2 for primary glaucoma in Australian Burmese cats. Anim Genet — PubMed:PMID37499110 | DOI:10.1111/age.13346 — OMIA Phene_Article / Article
- 2024. Trabecular meshwork abnormalities in a model of congenital glaucoma due to LTBP2 mutation. Invest Ophthalmol Vis Sci — PubMed:PMID39432401 | DOI:10.1167/iovs.65.12.28 — OMIA Phene_Article / Article
- 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
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:613086 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:602091 (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."