Polish Lowland Sheepdog — progressive retinal atrophy (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_polish_lowland_sheepdog_progressive_retinal_atrophy_dog category: companion-breed-health title: "Polish Lowland Sheepdog — progressive retinal atrophy (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/polish_lowland_sheepdog_progressive_retinal_atrophy_3098.txt date_parsed: 2026-08-02 tokens_estimated: 103 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_polish_lowland_sheepdog_progressive_retinal_atrophy_dog/01_companion_breed_health_polish_lowland_sheepdog_progressive_retinal_atrophy_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: "Polish Lowland Sheepdog — progressive retinal atrophy (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001575/9615/" 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

Polish Lowland Sheepdog — progressive retinal atrophy (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: Polish Lowland Sheepdog (Dog)
• Disorder: progressive retinal atrophy
• Mode of inheritance: Autosomal recessive
• Defect: yes
• Gen test: A DNA test for this disorder is provided by the UK Animal Health Trust. Details are available at: http://www.aht.org.uk/genetics_prarcd4.html

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 287044800 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Downs et al. (2013) reported the causal mutation of this type of progressive retinal atrophy in Gordon Setter and Irish Setters as being a frameshift mutation (c.3149_3150insC) in the gene C2orf71 (now called C17H2orf71 or photoreceptor cilium actin regulator, PCARE). However, this mutation does not account for all cases, indicating that there are more causal mutations yet to be discovered. Downs …

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.

• 2011. Inherited disease: new DNA test to help detect PRA mutation in Gordon setters. Vet Rec — PubMed:PMID21493523 | DOI:10.1136/vr.d1014 — OMIA Phene_Article / Article
• 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
• 2013. Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. Anim Genet — PubMed:PMID22686255 | DOI:10.1111/j.1365-2052.2012.02379.x — OMIA Phene_Article / Article
• 2016. Progressive retinal atrophy in the Polski Owczarek Nizinny dog: a clinical and genetic study. Vet Ophthalmol — PubMed:PMID26009980 | DOI:10.1111/vop.12284 — OMIA Phene_Article / Article
• 2014. Genetic screening for PRA-associated mutations in multiple dog breeds shows that PRA is heterogeneous within and between breeds. Vet Ophthalmol — PubMed:PMID24255994 | DOI:10.1111/vop.12122 — OMIA Phene_Article / Article
• 2018. Identification of the mutation causing progressive retinal atrophy in Old Danish Pointing Dog. Anim Genet — PubMed:PMID29624701 | DOI:10.1111/age.12659 — OMIA Phene_Article / Article
• 2019. Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. PLoS One — PubMed:PMID30650096 | DOI:10.1371/journal.pone.0209864 — 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
• 2023. Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs. Vet Rec Open — PubMed:PMID38028226 | DOI:10.1002/vro2.77 — 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

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:613428 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:613425 (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."