Achromatopsia 2

Discussion

Clinical comments

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). The disease is present at birth (i.e. it is congenital) and clinical signs show when dogs are approximately 8-10 weeks of age.

Breed-specific comments

Achromatopsia appears to have breed-specific associated variants. This information may change or expand over time.

Genetics

Inheritance

OMIA

001481

OMIA Variant

000097

OMIA URL

OMIN

216900

Gene

CNGA3

Variants

c.1270C>T; p.(R424W); c.1931_1933delTGG; p.(V644del)

Variants Comments

OMIA combined 2 unique variant IDs into 1481. OMIA variant 548 for Labrador Ret. c.1931_1933delTGG; p.(V644del). Variants appear to be breed-specific.

Testing

Test Types

Genetic-Genomic

Assessments

Specific Genetic Test

Assays

dwn_cnd_

Connections

Transient Photoreceptor Deconstruction by CNTF Enhances rAAV-Mediated Cone Functional Rescue in Late Stage CNGB3-Achromatopsia

Reference - Journal Article

Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia

Reference - Journal Article