Retinal dysplasia (OSD) - Labrador Retriver*

General description

Retinal Folds, also called Retinal Dysplasia (RD) can be associated with the syndrom OculoSkeletal Dysplasia(OSD). Clinical signs of OSD are skeletal malformations comprising shortened limbs (dwarfism) as well as blindness at early age. Blindness results from a partial or complete detachment of the retina and cataract due to a generalized malformation of the retina.

Breeds

Labradoodle, Labrador Retriever

Order details
Test number8392
AbbreviationOSD
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexophthalmic
Inheritanceautosomal dominant with incomplete penetrance
Causalitycausally
MutationINS
LiteratureOMIA:001522-9615
Detailed description

Retinal Folds, also called Retinal Dysplasia (RD), is observed in many dog breeds without any pathological consequence. However in the Labrador Retriever breed as well as in Samoyeds, Retinal Folds can be associated with a more severe syndrom, the OculoSkeletal Dysplasia (OSD). Clinical signs of OSD are skeletal malformations comprising shortened limbs (dwarfism) as well as blindness at early age. Blindness results from a partial or complete detachment of the retina and cataract due to a generalized malformation of the retina. The mode of inheritance is still not fully understood but an autosomal-dominant trait with incomplete penetrance is assumed.

* Il servizio viene effettuato da un laboratorio partner