Search Term: Achromatopsia (Cone Degeneration, Hemeralopia), AMAL
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
Achromatopsia (Cone Degeneration, Hemeralopia), AMAL
Disease Name 2
Achromatopsia (AMAL form) can cause day-blindness, total colorblindness, and limited vision particularly with regards to shapes and details of objects. For some breeds with this form of achromatopsia, there may be a late-onset. Please note that there are several forms of this disease that have tests available.
Achromatopsia is an autosomal recessive disease characterized by the loss of cone photoreceptor function that results in day-blindness, total colorblindness, and decreased central visual acuity. (Yeh et al., 2013)
Sidjanin, D.J., Lowe, J.K., McElwee, J.L., Milne, B.S., Phippen, T.M., Sargan, D.R., Aguirre, G.D., Acland, G.M., Ostrander, E.A.: Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3 Human Molecular Genetics 11:1823-33, 2002. Pubmed reference: 12140185.
Yeh, C.Y., Goldstein, O., Kukekova, A.V., Holley, D., Knollinger, A.M., Huson, H.J., Pearce-Kelling, S.E., Acland, G.M., Komáromy, A.M.: Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia. BMC Genet 14:27, 2013. Pubmed reference: 23601474. DOI: 10.1186/1471-2156-14-27.
Komáromy, A.M., Rowlan, J.S., Corr, A.T., Reinstein, S.L., Boye, S.L., Cooper, A.E., Gonzalez, A., Levy, B., Wen, R., Hauswirth, W.W., Beltran, W.A., Aguirre, G.D.: Transient Photoreceptor Deconstruction by CNTF Enhances rAAV-Mediated Cone Functional Rescue in Late Stage CNGB3-Achromatopsia. Mol Ther :, 2013. Pubmed reference: 23568263. DOI: 10.1038/mt.2013.50.
Alaskan Malamute, Alaskan sled dog, Miniature Australian shepherd, Siberian Husky
DNA My DogTest Discovery- GTP In House Testing Out Sourced Testing Participant
Genomia s.r.oHGTD Leadership Sponsor In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Participant
Bad Kissingen, Bavaria
Laboklin Gmbh & Co. KGHGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Other Recognized Accreditation Out Sourced Testing Participant Any Patents Held
St. Kilda, Victoria
Orivet Genetic Pet CareHGTD Leadership Sponsor Test Discovery- GTP Out Sourced Testing
Paw Print GeneticsHGTD Leadership Sponsor Test Discovery- GTP In House Testing Non-participant Other Recognized Accreditation Subsidiary Company
Veterinary Genetics LaboratoryHGTD Leadership Sponsor Test Discovery- GTP In House Testing Non-participant Other Recognized Accreditation
Naas, Co. Kildare
Weatherbys ScientificIn House Testing ISO Accredited/LAB ISO Accredited/tests Other Recognized Accreditation Out Sourced Testing Supporter