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Achromatopsia (Cone Degeneration, Hemeralopia), AMAL
Cone Degeneration
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.
  Discussion

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)

  Genetics
Inheritance
AR
OMIA
001365
OMIA Variant
000631
OMIA URL
https://www.omia.org/OMIA000631/9615/
OMIN
262300
Gene
CNGB3
Variants
Variants Comments
complete deletion
  Testing
Test Types
Genetic-Genomic
Assessments
Specific Genetic Test
Assays
dwn_cnd_
Connections
Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3
Reference - Unknown
  • Updated
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