--- license: permission_granted topic_id: companion_species_health_primary_hereditary_cataract_dog category: companion-species-health title: "Dog (Canis lupus familiaris) — Primary hereditary cataract (hereditary; OMIA-verified species predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-24 from local OMIA database dump." source_file: pdf-raw/species-health/dog_primary_hereditary_cataract_3427.txt date_parsed: 2026-08-24 tokens_estimated: 495 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-24 recovered: false path: companion-species-health/companion_species_health_primary_hereditary_cataract_dog/01_companion_species_health_primary_hereditary_cataract_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: "Dog (Canis lupus familiaris) — Primary hereditary cataract (hereditary; OMIA-verified species predisposition)" url: "https://omia.org/OMIA001758/9615/" retrieved: "2026-08-24" ref: "OMIA species-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 (species-specific disorder entries)" needs_review: false
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."---
Dog (Canis lupus familiaris) — Primary hereditary cataract (hereditary; OMIA-verified species predisposition)
Source: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Species: Dog (Canis lupus familiaris)Disorder: Primary hereditary cataractMode of inheritance: Barnett (1978) reported single-locus autosomal recessive inheritance. The mode of inheritance is reported as 'co-dominant' in Australian shepherds: "Dogs with one copy of the mutation develop bilateral posterior cataracts and homozygotes develop a nuclear cataract that typically progresses to a mature cataract" (Genetics Committee of the American College of Veterinary Opthalmologists, 2021).Summary: Other forms of inherited cataract have been been described in other breeds, for examples see ' OMIA:002536-9615 - Cataract, FYCO1-related' and ' OMIA:000168-9615 -Cataract, generic'.Clin feat: Cataract, defined as opacity of the lens, can be hereditary or nonhereditary. Clinical features include change in eye colour, pupil size, alteration in vision. Patients may be less aware of their surroundings due to reduced vision. In severe cataract cases, glaucoma can develop, causing pain and discomfort to the patient. Heritable cataracts are often categorised by marked breed specificity, age of onset, rate of progression, and the degree of bilateral symmetry (Mellersh et al., 2006). Mellersh et al. (2006) "Primary HC in the Staffordshire Bull Terrier was first reported in the UK in 1976 [Barnett, 1978]. This cataract is bilateral, symmetrical in the two eyes, and progressive until total with resultant blindness [Patterson, 2000]. It is not congenital but appears at a few weeks to months in age, progressing to total by 2 to 3 years of age. The ophthalmoscopic and slit-lamp biomicroscopic appearance is of a central area of opacity with a number of small areas of denser opacity ... , initially with a clear cortex. Progression is bilaterally symmetrical, the cataract becoming mature between 2 and 3 years ... ." [IT thanks DVM student Stephanie Chan for contributions to this entry in April 2022.]
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: NOL3 (Entrez Gene ID 23863019) — OMIA Phene_Gene / GeneSynonym
- OMIA molecular-genetics note: Building on their mapping results (see above), Mellersh et al. (2006) sequenced the HSF4 gene in Staffordshire Bull Terriers segregating the disorder, and identified "a single C nucleotide insertion in exon 9 (CFA5 g85286582–85286583insC) that alters the reading frame of the gene and introduces a premature stop codon". The same mutation appears to be causative in Boston Terriers, and a different m…
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.
- 2000. Companion animal medicine in the age of medical genetics [Review]. J Vet Intern Med — PubMed:PMID10668810 — OMIA Phene_Article / Article
- 2006. Identification of mutations in HSF4 in dogs of three different breeds with hereditary cataracts. Vet Ophthalmol — PubMed:PMID16939467 | DOI:10.1111/j.1463-5224.2006.00496.x — OMIA Phene_Article / Article
- 2008. Evaluation of canine heat shock transcription factor 4 (HSF4) as a candidate gene for primary cataracts in the Dachshund and the Entlebucher Mountain dog. Vet Ophthalmol — PubMed:PMID18190350 | DOI:10.1111/j.1463-5224.2007.00598.x — OMIA Phene_Article / Article
- 2008. Inheritance of cataracts and primary lens luxation in Jack Russell Terriers. Am J Vet Res — PubMed:PMID18241019 | DOI:10.2460/ajvr.69.2.222 — OMIA Phene_Article / Article
- 2009. Mutation in HSF4 is associated with hereditary cataract in the Australian Shepherd. Vet Ophthalmol — PubMed:PMID19883468 | DOI:10.1111/j.1463-5224.2009.00735.x — OMIA Phene_Article / Article
- 2007. Mutation in HSF4 associated with early but not late-onset hereditary cataract in the Boston Terrier. J Hered — PubMed:PMID17611257 | DOI:10.1093/jhered/esm043 — OMIA Phene_Article / Article
- 2007. Evaluation of canine heat-shock transcription factor 4 as a candidate for primary cataracts in English Cocker Spaniels and wire-haired Kromfohrlanders. J Anim Breed Genet — PubMed:PMID17651328 | DOI:10.1111/j.1439-0388.2007.00663.x — OMIA Phene_Article / Article
- 1978. Hereditary cataract in the dog. J Small Anim Pract — PubMed:PMID642468 | DOI:10.1111/j.1748-5827.1978.tb05463.x — OMIA Phene_Article / Article
- 1976. Comparative aspects of canine hereditary eye disease. Adv Vet Sci Comp Med — PubMed:PMID827198 — OMIA Phene_Article / Article
- 2013. Prevalence of inherited disorders among mixed-breed and purebred dogs: 27,254 cases (1995-2010). J Am Vet Med Assoc — PubMed:PMID23683021 | DOI:10.2460/javma.242.11.1549 — OMIA Phene_Article / Article
- 2015. A novel locus on canine chromosome 13 is associated with cataract in the Australian Shepherd breed of domestic dog. Mamm Genome — PubMed:PMID25894238 | DOI:10.1007/s00335-015-9562-2 — 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
- (4 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:116800 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:602438 (type: gene) — OMIA Group_OMIM (via OMIA_ID)