Oculo‐skeletal dysplasia in five Labrador Retrievers

Abstract

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.

MIA3 Splice Defect in Cane Corso Dogs with Dental-Skeletal-Retinal Anomaly (DSRA)

“…Hereditary dental pathologies are rare in dogs. While cases of combined skeletal and ocular anomalies have been reported in several dog breeds [3][4][5][6][7]14], according to our knowledge, a hereditary syndrome comprising brittle, translucent and discolored teeth, disproportionate growth and progressive vision loss, has so far not been described in dogs. Further studies to characterize the phenotype of DSRA affected dogs in detail are currently performed and will be published separately.…”