Oculo-skeletal dysplasia in five Labrador Retrievers

Vet Ophthalmol. 2020 Mar;23(2):386-393. doi: 10.1111/vop.12715. Epub 2019 Oct 9.


Objective: To describe the clinical features and diagnostic findings of Labrador Retrievers with oculo-skeletal dysplasia (OSD).

Animal studied: Five privately owned dogs.

Procedures: Medical records of dogs diagnosed with OSD from 2008 through 2018 were reviewed. Patients were excluded if lacking disease confirmation through genetic testing (Optigen RD/OSD). Information collected included signalment, physical and ophthalmic examination findings, results of ocular ultrasound and electroretinogram, and digital radiographs of forelimbs and pelvis.

Results: All five dogs were Labrador Retrievers, confirmed to be homozygote for the OSD mutation. The main physical abnormalities were vision deficits (5 dogs), short-limbed dwarfism (5), carpal valgus (4), and color dilution alopecia (4). The main ophthalmic anomalies were cataracts (10 eyes), vitreous syneresis (10), retinal separation (6), persistent hyperplastic primary vitreous (2), lens coloboma (2), microphakia (2), and persistent tunica vasculosa lentis (1). Ocular ultrasound and electroretinogram confirmed the diagnoses of retinal separations and persistent hyperplastic primary vitreous. Radiographic changes included shortening of ulna and curved radius (5 dogs), elbow incongruity and osteoarthritis (4 dogs), hip dysplasia (3), and coxofemoral osteoarthritis (2). Available follow-up information (2 dogs) showed progression of cataract from incipient to mature in one dog, necessitating cataract surgery, and progression of cataract and lameness in another dog.

Conclusions: The clinical findings of OSD are described in five Labrador Retrievers. DNA testing is critical to diagnose OSD and help eradicate this condition from the breed. Progression of cataracts and osteoarthritis in dogs with OSD warrants yearly monitoring.

Keywords: cataract; dog; dwarfism; oculoskeletal dysplasia; retinal dysplasia; retinal separation.

Publication types

  • Case Reports

MeSH terms

  • Alopecia / genetics
  • Alopecia / veterinary*
  • Animals
  • Dog Diseases / genetics*
  • Dogs
  • Dwarfism / genetics
  • Dwarfism / veterinary*
  • Eye Diseases / genetics
  • Eye Diseases / pathology
  • Eye Diseases / veterinary*
  • Flatfoot / genetics
  • Flatfoot / veterinary*
  • Homozygote
  • Retrospective Studies