--- license: permission_granted topic_id: companion_breed_health_saarloos_wolfhond_progressive_retinal_central_and_peripheral_neurodegeneration_dog category: companion-breed-health title: "Saarloos Wolfhond — Progressive retinal, central, and peripheral neurodegeneration (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/saarloos_wolfhond_progressive_retinal_central_and_peripheral_neurodegeneration_5457.txt date_parsed: 2026-08-02 tokens_estimated: 974 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_saarloos_wolfhond_progressive_retinal_central_and_peripheral_neurodegeneration_dog/01_companion_breed_health_saarloos_wolfhond_progressive_retinal_central_and_peripheral_neurodegeneration_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: "Saarloos Wolfhond — Progressive retinal, central, and peripheral neurodegeneration (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002728/9615/" 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
Saarloos Wolfhond — Progressive retinal, central, and peripheral neurodegeneration (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: Saarloos Wolfhond (Dog)Disorder: Progressive retinal, central, and peripheral neurodegenerationMode of inheritance: Autosomal recessiveClin feat: Clinical signs involved early adult onset retinal degeneration and adult-onset neurological deficits including gait abnormalities, hind limb weakness, tremors, ataxia, cognitive decline and behavioral changes such as aggression towards the owner. (Christen et al., 2024) The first noticable clinical signs in the affected dogs involved a progressive loss of vision. Affected dogs developed prcd-PRA that let to blindness in older dogs. In six affected dogs of the study, the PRA diagnosis was made between 20 and 46 months of age (av 36 m, SD: 17 m) (Christen et al., 2024). Subsequent to the visual decline The eleven affected dogs additionally exhibited a range of neurological and neuromuscular signs, including gait abnormalities, hind limb weakness, tremors, ataxia, cognitive decline and behavioral changes such as aggression towards the owner. ... Additionally, epileptic seizures were reported in cases 5, 6, 8, and 11. MRI was reportedly done at four years of age in cases 7, 9 and 10. The MRIs of cases 7 and 10 showed brain atrophy compatible with neurodegenerative disease. Notably, MRI findings in case 9 were normal even though it was performed after the onset of neurological signs. (Christen et al. 2024)Defect: yesPathology: Histopathology of case 9, euthanized at 63 months of age, revealed severe bilateral retinal degeneration with loss of layering and atrophy. The outer and inner nuclear layers were thin and partially fused, and the outer plexiform layer and the rod/cone layer were barely visible. The inner plexiform layer was loose, and the number of ganglion cells was severely reduced. Additionally, there was bilateral cataract with presence of capsular epithelium (posterior migration of lens epithelium) and Morgagnian globules at the caudal poles. Brain and spinal cord showed scattered hypertrophy and hyperplasia of white matter astrocytes, which had a large amount of cytoplasm and large irregular to lobulated nuclei. These changes were most prominent in the spinal cord, brainstem, cerebellar medulla and in the corona radiata. Multiple small glial nodules were present in the white matter of the spinal cord and brainstem. The cerebellar foliae appeared slightly thin with widening of the sulci. Gliosis was observed in the molecular layer, and Purkinje cells appeared to be irregularly distributed. The neuropil of the caudate nucleus, and to a lesser extent the cortex, contained well-defined vacuoles of variable sizes that were associated with astrocytic hypertrophy. In addition to the astrocytic hypertrophy, axonal swelling/degeneration and dilation of myelin sheaths containing axonal fragments were observed in the spinal cord. The changes were most severe in the dorsal funiculi, and particularly in the cervical spinal cord. However, milder changes were also found in other funiculi. The cuneate and gracile nucleus in the brainstem contained multiple axonal spheroids. Myelin ballooning was observed multifocally in the dorsal root ganglia, with multiple axons being swollen, pale, and surrounded by a very thin myelin sheet. Multifocal mild meningothelial proliferation was additionally observed in the subarachnoid space of spinal cord and cerebellum. Skeletal muscles multifocally contained single myofibers or myofiber groups that were atrophic and triangular to flat in appearance, with multifocal internalization of nuclei. Multiple terminal nerve fibers showed increased interstitial fibrosis that separated the axons. (Christen et al., 2024)Prevalence: At the time of publication, the carrier frequency in the population was 19.1% in a cohort of 998 dogs (Christen et al., 2024).
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 398298867 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
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.
- 2024. PCYT2 deficiency in Saarlooswolfdogs with progressive retinal, central, and peripheral neurodegeneration. Mol Genet Metab — PubMed:PMID38277988 | DOI:10.1016/j.ymgme.2024.108149 — 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:602679 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:618770 (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."