--- license: permission_granted topic_id: companion_breed_health_english_mastiff_retinitis_pigmentosa_dog category: companion-breed-health title: "English Mastiff — retinitis pigmentosa (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/english_mastiff_retinitis_pigmentosa_2673.txt date_parsed: 2026-08-02 tokens_estimated: 302 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_english_mastiff_retinitis_pigmentosa_dog/01_companion_breed_health_english_mastiff_retinitis_pigmentosa_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: "English Mastiff — retinitis pigmentosa (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001346/9615/" 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
English Mastiff — retinitis pigmentosa (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: English Mastiff (Dog)Disorder: retinitis pigmentosaMode of inheritance: Autosomal dominantClin feat: As detailed by Kijas et al. (2002), rod vision is normal for at least the first few months. But by 12-18 months, degeneration is evident, spreading slowly from a disease focus in one retinal region. In addition, there is an abnormally slow recovery of rod photoreceptor function after exposure to light.Homozygotes have more severe clinical signs than heterozygotes [Frank Nicholas, 26 June 2002] Iwabe et al. (2016) reported that a short single exposure to a dose of white light that is not retinotoxic in [wild-type] WT dogs causes in the T4R RHO retina an acute loss of ONL in the central to mid peripheral region that keeps progressing over the course of several weeks. However, this severe retinal damage does not affect visual behavior presumably because of islands of surviving photoreceptors found in the area centralis including the newly discovered canine fovea-like area, and the lack of damage to peripheral photoreceptors.Defect: yes
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: RHO1 (Entrez Gene ID 493763) — OMIA Phene_Gene / GeneSynonym
- OMIA molecular-genetics note: Kijas et al. (2002) discovered an autosomal-dominant progressive retinal atrophy in English Mastiff dogs, with clinical signs very similar to a human dominant retinitis pigmentosa that is due to mutations in the gene for rhodopsin. Taking the rhodopsin gene as a strong comparative candidate, Kijas et al. (2002) sequenced all five exons of the canine rhodopsin gene from a heterozygous affected dog,…
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.
- 2002. Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. Proceedings of the National Academy of Sciences of the United States of America — PubMed:PMID11972042 | DOI:10.1073/pnas.082714499 — OMIA Phene_Article / Article
- 2005. Evaluation of prognostic factors, survival rates, and treatment protocols for immune-mediated hemolytic anemia in dogs: 151 cases (1993-2002). J Am Vet Med Assoc — PubMed:PMID15934255 — OMIA Phene_Article / Article
- 2009. Steroids do not prevent photoreceptor degeneration in the light-exposed T4R rhodopsin mutant dog retina irrespective of AP-1 inhibition. Invest Ophthalmol Vis Sci — PubMed:PMID19234347 | DOI:10.1167/iovs.08-3111 — OMIA Phene_Article / Article
- 2003. Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff dog breeds. J Hered — PubMed:PMID12692159 — OMIA Phene_Article / Article
- 2005. In vivo dynamics of retinal injury and repair in the rhodopsin mutant dog model of human retinitis pigmentosa. Proc Natl Acad Sci U S A — PubMed:PMID9618546 — 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
- 2016. Assessment of visual function and retinal structure following acute light exposure in the light sensitive T4R rhodopsin mutant dog. Exp Eye Res — PubMed:PMID27085210 | DOI:10.1016/j.exer.2016.04.006 — OMIA Phene_Article / Article
- 2015. Exclusion of the unfolded protein response in light-induced retinal degeneration in the canine T4R RHO model of autosomal dominant retinitis pigmentosa. PLoS One — PubMed:PMID25695253 | DOI:10.1371/journal.pone.0115723 — OMIA Phene_Article / Article
- 2004. A naturally occurring mutation of the opsin gene (T4R) in dogs affects glycosylation and stability of the G protein-coupled receptor. J Biol Chem — PubMed:PMID15459196 | DOI:10.1074/jbc.M408472200 — OMIA Phene_Article / Article
- 2017. Acute and protracted cell death in light-induced retinal degeneration in the canine model of rhodopsin autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci — PubMed:PMID28114588 | DOI:10.1167/iovs.16-20749 — OMIA Phene_Article / Article
- 2018. Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector. Proc Natl Acad Sci U S A — PubMed:PMID30127005 | DOI:10.1073/pnas.1805055115 — OMIA Phene_Article / Article
- 2022. Mutations in rhodopsin, endothelin B receptor, and CC chemokine receptor 5 in large animals: Modeling human diseases. Prog Mol Biol Transl Sci — PubMed:PMID35595348 | DOI:10.1016/bs.pmbts.2022.02.003 — OMIA Phene_Article / Article
- (7 additional references in OMIA)
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:610445 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:613731 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:136880 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:180380 (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."