Details of Disease

General Information of Disease (ID: DIS4ZTNS)

Disease Name Achromatopsia 2
Synonyms
Rod monochromatism 2; colorblindness, total; Rod monochromacy 2; ACHM2; rod monochromatism 2; achromatopsia 2; RMCH2; achromatopsia caused by mutation in CNGA3; CNGA3 achromatopsia; rod monochromacy 2; achromatopsia type 2
Definition
Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms.
Disease Hierarchy
DISKL51I: Achromatopsia
DISHSSLI: CNGA3-related retinopathy
DIS4ZTNS: Achromatopsia 2
Disease Identifiers
MONDO ID
MONDO_0009003
MESH ID
C536128
UMLS CUI
C1857618
OMIM ID
216900
MedGen ID
387867

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CACNA1F TTJ0SO4 Strong Genetic Variation [1]
CNGA3 TTW0QOV Definitive Autosomal recessive [2]
CNGA3 TTW0QOV Definitive Genetic Variation [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CNGA3 OTYQ7TYM Definitive Autosomal recessive [2]
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References

1 Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture).Ophthalmic Genet. 2002 Jun;23(2):71-97. doi: 10.1076/opge.23.2.71.2214.
2 Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders. Ophthalmic Genet. 2011 Jun;32(2):107-13. doi: 10.3109/13816810.2010.544366. Epub 2011 Jan 26.
3 High-Throughput Ca(2+) Flux Assay To Monitor Cyclic Nucleotide-Gated Channel Activity and Characterize Achromatopsia Mutant Channel Function.ACS Chem Neurosci. 2019 Aug 21;10(8):3662-3670. doi: 10.1021/acschemneuro.9b00231. Epub 2019 Jul 24.