Golden Retriever — Congenital eye malformation; microphthalmos (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_golden_retriever_congenital_eye_malformation_microphthalmos_dog category: companion-breed-health title: "Golden Retriever — Congenital eye malformation; microphthalmos (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/golden_retriever_congenital_eye_malformation_microphthalmos_4218.txt date_parsed: 2026-08-02 tokens_estimated: 151 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_golden_retriever_congenital_eye_malformation_microphthalmos_dog/01_companion_breed_health_golden_retriever_congenital_eye_malformation_microphthalmos_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Golden Retriever — Congenital eye malformation; microphthalmos (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002208/9615/" 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

Golden Retriever — Congenital eye malformation; microphthalmos (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: Golden Retriever (Dog)
• Disorder: Congenital eye malformation; microphthalmos
• Mode of inheritance: Autosomal dominant with incomplete penetrance
• Defect: yes
• Prevalence: Hug et al. (2019): All three available cases were heterozygous. Five additional close relatives including the common sire were also heterozygous, but did not show any obvious eye phenotypes. The variant was absent from the 464 unrelated Golden Retrievers and 17 non-affected siblings of the cases.

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 388255052 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: By comparing the genome sequence of one affected Golden Retriever with the sequence of 601 control genomes, Hug et al. (2019) identified a "heterozygous private nonsense variant, c.487C&gt;T . . . in the SIX6 gene. This variant is predicted to truncate about a third of the open reading frame, p.(Gln163*) . . . We hypothesize that the residual amount of functional SIX6 protein likely to be expresse…

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.

• 2019. A SIX6 nonsense variant in Golden Retrievers with congenital eye malformations. Genes (Basel) — PubMed:PMID31207931 | DOI:10.3390/genes10060454 — OMIA Phene_Article / Article
• 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article
• 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article
• 2026. Genetic link across species: SIX6, a major human glaucoma gene, confers susceptibility to glaucoma in Shiba-Inu dogs. Invest Ophthalmol Vis Sci — PubMed:PMID41533905 | DOI:10.1167/iovs.67.1.5 — 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:212550 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:606326 (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."