Achromatopsia 2

A rare hereditary form of colorblindness characterized by PHOTOPHOBIA; NYSTAGMUS; reduced visual acuity, and a complete inability to discriminate between colors. It is caused by mutations in the CNGA3 gene. OMIM: 216900

Also Known As:

Networked: 9 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Color Vision Defects (Color Blindness)
2.	Achromatopsia 3
3.	Achromatopsia 2
4.	Photophobia (Light Sensitivity)
5.	Muscle Hypotonia (Hypotonia)

Experts

1.	Michalakis, Stylianos: 2 articles (01/2022 - 01/2017)
2.	Tanaka, Jacqueline C: 2 articles (01/2019 - 07/2005)
3.	Del Cid-Pellitero, Esther: 2 articles (11/2017 - 09/2017)
4.	Jones, Barbara E: 2 articles (11/2017 - 09/2017)
5.	Toossi, Hanieh: 2 articles (11/2017 - 09/2017)
6.	Gerhardt, Maximilian: 1 article (01/2022)
7.	Priglinger, Claudia: 1 article (01/2022)
8.	Priglinger, Siegfried: 1 article (01/2022)
9.	Rudolph, Günther: 1 article (01/2022)
10.	Colussi, Dennis J: 1 article (01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Achromatopsia 2:

1.	Retinaldehyde (Retinal)IBA 08/25/1957 - "Retinal processes in total color blindness." 01/01/2022 - "Achromatopsia (ACHM), also known as rod monochromatism or total color blindness, is an autosomal recessively inherited retinal disorder that affects the cones of the retina, the type of photoreceptors responsible for high-acuity daylight vision. " 01/01/2019 - "More than 100 mutations in the CNGA3 gene are associated with the inherited retinal disorder, achromatopsia 2 (ACHM2), which results in attenuation or loss of color vision, daylight blindness, and reduced visual acuity. " 06/01/1999 - "Achromatopsia, or total color blindness (also referred to as "rod monochromacy"), is a severe retinal disorder characterized clinically by an inability to distinguish colors, impaired visual acuity in daylight, photophobia, and nystagmus. " 07/01/2005 - "Achromatopsia 2, an inherited retinal disorder resulting in attenuation or loss of cone function, is caused by mutations in the alpha subunit of the cone cyclic nucleotide-gated (CNG) channel gene CNGA3. "
2.	Cholinergic Agents (Cholinergics)IBA 11/01/2017 - "Using immunofluorescence, we investigated first, by staining for c-Fos, whether GABAergic RFMes neurons are active during SD and then, by staining for receptors, whether their activity is associated with homeostatic changes in GABAA or acetylcholine muscarinic type 2 (AChM2) receptors (Rs), which evoke inhibition. " 09/01/2017 - "The muscle hypotonia and atonia during sleep depend in part on GABA acting upon both GABAA and GABAB receptors (Rs) and acetylcholine (ACh) acting upon muscarinic 2 (AChM2) Rs. "
3.	Cyclic NucleotidesIBA 01/01/2017 - "Achromatopsia type 2 (ACHM2) is a severe, inherited eye disease caused by mutations in the CNGA3 gene encoding the α subunit of the cone photoreceptor cyclic nucleotide-gated (CNG) channel. " 07/01/2005 - "Achromatopsia 2, an inherited retinal disorder resulting in attenuation or loss of cone function, is caused by mutations in the alpha subunit of the cone cyclic nucleotide-gated (CNG) channel gene CNGA3. "
4.	Acetylcholine (Acetylcholine Chloride)FDA Link 11/01/2017 - "Using immunofluorescence, we investigated first, by staining for c-Fos, whether GABAergic RFMes neurons are active during SD and then, by staining for receptors, whether their activity is associated with homeostatic changes in GABAA or acetylcholine muscarinic type 2 (AChM2) receptors (Rs), which evoke inhibition. " 09/01/2017 - "The muscle hypotonia and atonia during sleep depend in part on GABA acting upon both GABAA and GABAB receptors (Rs) and acetylcholine (ACh) acting upon muscarinic 2 (AChM2) Rs. "
5.	Proteins (Proteins, Gene)FDA Link 04/18/2008 - "TalphaCisakey phototransduction protein, and inherited mutations in TalphaC cause total color blindness in humans. "
6.	gamma-Aminobutyric Acid (GABA)IBA 09/01/2017 - "The muscle hypotonia and atonia during sleep depend in part on GABA acting upon both GABAA and GABAB receptors (Rs) and acetylcholine (ACh) acting upon muscarinic 2 (AChM2) Rs. "

Therapies and Procedures

1.	Therapeutics 01/01/2017 - "We have previously shown in the Cnga3 knockout (KO) mouse model of ACHM2 that gene supplementation therapy is effective in rescuing cone function and morphology and delaying cone degeneration. "