Search Term: Achromatopsia (cone degeneration, hemeralopia), GSPT
Breeds
Relevance Rating: There is some evidence or research available in this breed
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 in this breed
Disease Name
Achromatopsia (cone degeneration, hemeralopia), GSPT
Disease Name 2
Colour-blindness/Achromatopsia
OMIA
1676
Gene Name
CNGB3
Mutation
c.784G>A
OMIM
262300
OMIA Code
ACHM
Test Type
Genetic Disease/Disorder
Details
Day Blindness also known as Achromatopsia , or color blindness, is characterized by cone photoreceptor dysfunction, causing severely reduced or complete vision loss during daylight hours. Dogs may also show signs of avoiding bright light or distress in bright light (photophobia), and total colour-blindness. The disease is present at birth (i.e. it is congenital) and clinical signs show when dogs are approximately 8-10 weeks of age.
Details 2
Day-blindness in bright light, normal vision in dim light. 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.
Published
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.
Published 2
Dixon, C.J. : Achromatopsia in three sibling Labrador Retrievers in the UK. Vet Ophthalmol 19:68-72, 2016. Pubmed reference: 25752464. DOI: 10.1111/vop.12265.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Gene Name Text
cyclic nucleotide gated channel beta 3
Researched Breeds
German Shorthaired Pointers, Alaskan Malamute
GTPs
La Tour de Salvagny, N/A
FR
FR
Antagene
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB Non-Participant Out Sourced Testing Any Patents Held
Toronto, Ontario
CA
CA
Boston, MA
US
US
Embark
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/LAB Out Sourced Testing Any Patents Held Sponsor
Plzen
CZ
CZ
Genomia s.r.o
HGTD Leadership Sponsor In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Participation Pending
Bad Kissingen, Bavaria
DE
DE
Laboklin Gmbh & Co. KG
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Other Recognized Accreditation Out Sourced Testing Participation Pending Any Patents Held Supporter
St. Kilda, Victoria
AU
AU
Spokane, Washington
US
US
Paw Print Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Non-Participant Other Recognized Accreditation Subsidiary Company
Davis, California
US
US
Veterinary Genetics Laboratory
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Non-Participant Other Recognized Accreditation
Wageningen
NL
NL
VHL Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB Out Sourced Testing Supporter
Vancouver, Washington
US
US
Wisdom Panel - Kinship
HGTD Leadership Sponsor Test Discovery- GTP Other Recognized Accreditation Out Sourced Testing Participation Pending Sponsor
Zagreb
HR
HR