Talk:Achromatopsia

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Sixth Symptom

In regards to this passage:

"A sixth symptom associated with achromatopsia/dychromatopsia is seldom reported. Many sufferers are unaware of the three-dimensional aspect of their visual system. They frequently fail to observe any of the stereographic features of a scene."

I have added a [citation needed] on this. I am a complete achromat and am perfectly aware of my three-dimensional visual aspect. The use of the phrase "stereographic" leads me to believe that the author is basing this "sixth symptom" off of the fact that achromats cannot see "stereographic illusions" such as those pictures you stare at where your eyes cross and then you see the statue of liberty or something. Those illusions use COLOR to do what they do, therefore this is not a failure to observe the 3-dimensional, but a failure to see color which is already a known and primary symptom of Achromatopsia. So, any "3D vision tests" using color-based "3D illusions" would be incapable of determining an achromat's ability to distinguish 3-dimensional aspects of vision.

I have not removed the paragraph due to the fact that my reasoning against it, laid out here, constitutes original research. However I would very much like to see the author's source for this statement as it may very well be original research (or a guess) as well. --Lord Galen (talk) 07:38, 24 May 2009 (UTC)

After more than 4 years, I have now removed this paragraph. I can find absolutely no evidence whatsoever to suggest that this statement about Achromats is correct. If the author would like it included, they will need to cite a source. Lord Galen (talk) 08:49, 5 August 2013 (UTC)

Achromatopsia :O

"Achromatopsia :O" Is the ":O" a smiley, or an identification of the disorder type? —Preceding unsigned comment added by PrinceNaveen1000 (talk • contribs) 05:26, 20 June 2009 (UTC)

That was vandalism from January. Thanks for pointing it out. --Dpryan (talk) 05:39, 20 June 2009 (UTC)

Cerebral (acquired) variation

Cerebral achromatopsia should be pointed out in the early stages of the introduction, not half way down the page.

Feel free to add it in. --Dpryan (talk) 18:32, 9 October 2009 (UTC)

Not sex-linked?

Anyone that is a little bit familiar with "regular" color blindness knows that it's a lot more common in males than in females. However, from what I understand, rod monochromacy should be as frequent in females as it is in males since it has nothing to do with the X chromosome (blue monochromacy should be more frequent in males, but it's apparently a lot rarer).
Shouldn't the article mention this: that contrary to regular color blindness, achromatopsia occurs in females as frequently as it occurs in males?
Masorick (talk) 04:04, 6 April 2012 (UTC)

• I can give you a personal example. My mother had achromotopsia with all four classic symptoms: lack of colour distinction (achromatopia), poor visual acuity (amlyopia; in her case, best corrected vision was 20/200 in one eye, 20/400 in the other), "day blindness" (hemeralopia), and nystagmus (in her case, with one eye oscillating at a faster rate than the other eye). But only the central field of her vision was affected. Her peripheral vision was 20/20 *without* correction.

• And I have perfectly normal colour vision. This is because achromatopsia and colour deficiency (aka colour blindness) are caused by completely different sets of genes; and whereas achromatopsia can be either inherited (genetic) or acquired (non-genetic), colour deficiency can *only* be genetic.

• More specifically, the genes that cause blue-yellow and red-green colour deficiency are carried on the X chromosome. Because women have two X chromosomes, a woman must inherit the pertinent gene(s) from both her mother and father to have colour deficiency. That means her father will be colour deficient (because he has only one X chromosome) but her mother need only be a carrier of the gene(s) on just one of her X chromosomes.

• Conversely, the son of a woman who has colour deficiency cannot avoid having colour deficiency because whichever X chromosome he inherits from his mother, he is going to inherit a gene or genes for colour deficiency - because he only has *one* X chromosome. If his mother does *not* have colour deficiency but is a carrier of one of the genes, he will still be colour deficient if he inherits the X chromosome that carries that gene, whereas *she* will have perfectly normal colour vision.

• In the case of achromatopsia, both parents can have perfect colour vision and the child can still have defective colour vision (which was true in my mother's case) - because achromatopsia is a completely different problem from colour deficiency.

• 2601:645:C300:16DD:6DA2:295C:2C60:D470 (talk) 12:12, 18 November 2015 (UTC)

Do Not Merge This Article!

This article should NOT be merged with the article on monochromacy. It is a completely different subject.

CAUTION: Do not confuse "acromatopia" (no 's') with achromatopsia (with an 's').

Achromatopia or colour deficiency is just one of the symptoms of achromatopsia. The other classic and invariable symptoms of achromatopsia are amblyopia, hemeralopia and nystagmus. Photophobia can also be expressed if the hemeralopia is severe.

If you do not have all four classic symptoms, you do not have achromatopsia.

Monochromacy, on the other hand, only deals with colour deficiency. It is one of the three types of colour deficiency. The other two types of blue-yellow colour deficiency and red-green colour deficiency. Monochromacy exists when someone has both blue-yellow and red-green colour deficiency.

The genes that cause blue-yellow colour deficiency and red-green colour deficiency are carried on the X chromosome. Because men only have one X chromosome, they will be colour deficient if their X chromosome carries the pertinent gene(s). Women, however, have *two* X chromosomes so they must inherit the gene(s) from *both* their parents.

Thus:

1. A mother can carry a gene for colour deficiency without being colour deficient herself. 2. The daughter of a mother who *is* colour deficient usually will *NOT* be colour deficient (because she would need to get the same gene from her father as from her mother). 3. The son of a mother who is colour deficient *always* will be colour deficient, because whichever X chromosome he inherits from his mother, it is going to be carrying a gene for colour deficiency. 4. The son of a mother with *achromatopsia,* on the other hand, will NOT usually inherit the syndrome from his mother, because genetic achromotopsia is not caused by genes carried on the X chromasome. 5. A person with colour deficiency usually does NOT have amblyopia or hemeralopia, and almost never has nystagmus. They might not be able to see colours but the rest of their vision will usually be normal.

The achromatopia that happens as a symptom of achromatopsia, however, has NOTHING to do with either blue-yellow or red-green colour deficiency. Unlike normal colour deficiency, achromotopsia, 1) need not be caused by genetics and, 2) when it is genetic, it's not caused by the same genes.

Rather, the colour deficiency that is one symptom of achromatopsia involves the ability of the cone cells to receive and/or process light of any kind; with the result the rod cells become saturated, which causes the hemeralopia. 2601:645:C300:16DD:6DA2:295C:2C60:D470 (talk) 11:54, 18 November 2015 (UTC)

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The image and the text under it.

I find that the image of the grayscale parrot with the text under it alludes to a person with achromatopsia seeing it in grayscale, is basically trolling. You know, since the image is in grayscale to start with, so everybody sees it in grayscale, but the text makes it sound like you only see it in grayscale if you have this condition :) Shouldn't the text specify explicitly, that the image above is a demonstration of how a person with achromatopsia would see things? Possibly even include the original image too, maybe half-half? Yoyo (talk) 22:10, 29 January 2019 (UTC)

Unused citations, 24 March 2019

Last November, I deleted the overly WP:TECHNICAL tables from the article. However, this has left a number of unused citations, previously cited from within aforementioned tables. So, cleaning up after myself, I'm moving these here to facilitate any potential future rescue.

Unused citations, 24 March 2019

Books François, J. (1961). Heredity in Ophthalmology. St. Louis: Mosby. ISBN 9780853132219. OCLC 612180204. {{cite book}}: Invalid |ref=harv (help) * {{cite book|last = François|first = J.|authorlink = Jules François|date = 1961|title = Heredity in Ophthalmology|location = St. Louis|publisher = [[Mosby (imprint)|Mosby]]|isbn = 9780853132219|oclc = 612180204|ref = harv}} Journals Johnson, S.; Michaelides, M.; Aligianis, I. A.; Ainsworth, J. (2004). "Achromatopsia caused by novel mutations in both CNGA3 and CNGB3". J. Med. Genet. 41 (2): e20. doi:10.1136/jmg.2003.011437. PMC 1735666. PMID 14757870. {{cite journal}}: Invalid |ref=harv (help); Unknown parameter |displayauthors= ignored (|display-authors= suggested) (help) Kohl, S.; Marx, T.; Giddings, I. (1998). "Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel". Nat. Genet. 19 (3): 257–259. doi:10.1038/935. PMID 9662398. {{cite journal}}: Invalid |ref=harv (help); Unknown parameter |displayauthors= ignored (|display-authors= suggested) (help) Kohl, S.; Baumann, B.; Broghammer, M. (2000). "Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21". Hum. Mol. Genet. 9 (14): 2107–2116. doi:10.1093/hmg/9.14.2107. PMID 10958649. {{cite journal}}: Invalid |ref=harv (help); Unknown parameter |displayauthors= ignored (|display-authors= suggested) (help) Kohl, S.; Baumann, B.; Rosenberg, T. (2002). "Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia". Am. J. Hum. Genet. 71 (2): 422–425. doi:10.1086/341835. PMC 379175. PMID 12077706. {{cite journal}}: Invalid |ref=harv (help); Unknown parameter |displayauthors= ignored (|display-authors= suggested) (help) Kohl, S.; Varsanyi, B.; Antunes, G. A. (2005). "CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia". Eur. J. Hum. Genet. 13 (3): 302–308. doi:10.1038/sj.ejhg.5201269. PMID 15657609. {{cite journal}}: Invalid |ref=harv (help); Unknown parameter |displayauthors= ignored (|display-authors= suggested) (help) Rojas, C. V.; María, L. S.; Santos, J. L.; Cortés, F. (2002). "A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate". Eur. J. Hum. Genet. 10 (10): 638–642. doi:10.1038/sj.ejhg.5200856. PMID 12357335. {{cite journal}}: Invalid |ref=harv (help); Unknown parameter |displayauthors= ignored (|display-authors= suggested) (help) Sundin, O. H.; Yang, J. M.; Li, Y. (2000). "Genetic basis of total colourblindness among the Pingelapese islanders". Nat. Genet. 25 (3): 289–293. doi:10.1038/77162. PMID 10888875. {{cite journal}}: Invalid |ref=harv (help); Unknown parameter |displayauthors= ignored (|display-authors= suggested) (help) Wissinger, B.; Gamer, D.; Jägle, H. (2001). "CNGA3 mutations in hereditary cone photoreceptor disorders". Am. J. Hum. Genet. 69 (4): 722–737. doi:10.1086/323613. PMC 1226059. PMID 11536077. {{cite journal}}: Cite has empty unknown parameter: |1= (help); Invalid |ref=harv (help); Unknown parameter |displayauthors= ignored (|display-authors= suggested) (help) * {{cite journal|last = Johnson|first = S.|last2 = Michaelides|first2 = M.|last3 = Aligianis|first3 = I. A.|last4 = Ainsworth|first4 = J.|displayauthors = 1|date = 2004|title = Achromatopsia caused by novel mutations in both CNGA3 and CNGB3|journal = [[Journal of Medical Genetics|J. Med. Genet.]]|volume = 41|issue = 2|pages = e20|pmc = 1735666|doi = 10.1136/jmg.2003.011437|pmid = 14757870|ref = harv}} * {{cite journal|last = Kohl|first = S.|last2 = Marx|first2 = T.|last3 = Giddings|first3 = I.|displayauthors = 1|date = 1998|title = Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel|journal = [[Nature Genetics|Nat. Genet.]]|volume = 19|issue = 3|pages = 257–259|doi = 10.1038/935|pmid = 9662398|ref = harv}} * {{cite journal|last = Kohl|first = S.|last2 = Baumann|first2 = B.|last3 = Broghammer|first3 = M.|displayauthors = 1|date = 2000|title = Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21|journal = [[Human Molecular Genetics|Hum. Mol. Genet.]]|volume = 9|issue = 14|pages = 2107–2116|doi = 10.1093/hmg/9.14.2107|pmid = 10958649|ref = harv}} * {{cite journal|last = Kohl|first = S.|last2 = Baumann|first2 = B.|last3 = Rosenberg|first3 = T.|displayauthors = 1|date = 2002|title = Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia|journal = [[American Journal of Human Genetics|Am. J. Hum. Genet.]]|volume = 71|issue = 2|pages = 422–425|pmc = 379175|doi = 10.1086/341835|pmid = 12077706|ref = harv}} * {{cite journal|last = Kohl|first = S.|last2 = Varsanyi|first2 = B.|last3 = Antunes|first3 = G. A.|displayauthors = 1|date = 2005|title = CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia|journal = [[European Journal of Human Genetics|Eur. J. Hum. Genet.]]|volume = 13|issue = 3|pages = 302–308|doi = 10.1038/sj.ejhg.5201269|pmid = 15657609|ref = harv}} * {{cite journal|last = Rojas|first = C. V.|last2 = María|first2 = L. S.|last3 = Santos|first3 = J. L.|last4 = Cortés|first4 = F.|displayauthors = 1|date = 2002|title = A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate|journal = [[European Journal of Human Genetics|Eur. J. Hum. Genet.]]|volume = 10|issue = 10|pages = 638–642|doi = 10.1038/sj.ejhg.5200856|pmid = 12357335|ref = harv}} * {{cite journal|last = Sundin|first = O. H.|last2 = Yang|first2 = J. M.|last3 = Li|first3 = Y.|displayauthors = 1|date = 2000|title = Genetic basis of total colourblindness among the Pingelapese islanders|journal = [[Nature Genetics|Nat. Genet.]]|volume = 25|issue = 3|pages = 289–293|doi = 10.1038/77162|pmid = 10888875|ref = harv}} * {{cite journal||last = Wissinger|first = B.|last2 = Gamer|first2 = D.|last3 = Jägle|first3 = H.|displayauthors = 1|date = 2001|title = CNGA3 mutations in hereditary cone photoreceptor disorders|journal = [[American Journal of Human Genetics|Am. J. Hum. Genet.]]|volume = 69|issue = 4|pages = 722–737|pmc = 1226059|doi = 10.1086/323613|pmid = 11536077|ref = harv}}

Take care. Jay D. Easy (talk) 20:58, 24 March 2019 (UTC)

Useful Resources, 28th April 2021

Today, I attempted to add two External Links to resources on how to cope with achromatopsia:

• Achromatopsia Support Group
• The Achromatopsia Network

However the changes were reverted as "not Wikipedia sources".

As a parent of someone with Achromatopsia, I can confirm that the information that can be obtained via these links is extremely valuable. I feel they should be included somewhere in this article, but how? In the Management section perhaps?

AReasonablePerson (talk) 14:07, 28 April 2021 (UTC)

The links were added as "links to support groups". As I read policies, e.g. Wikipedia:External links#What can normally be linked, such a link would be relevant on a wikipedia page about those groups, if they are notable enough to have such pages (and independent sources for the groups can be found, too). If the page - not the support group, but the page itself - "contain[s] information about the subject of the article from knowledgeable sources", it may be acceptable here too.--Nø (talk) 14:32, 28 April 2021 (UTC)

So, if I understand you correctly, the only way to add links to the support groups for this condition would be to create separate Wikipedia pages for these organisations, which would then likely be deleted as "non-notable" as they only impact 1 in 30,000 of the population. This despite the wealth of first hand advice and knowledge they contain. Whereas Neil Harbisson's wholly impractical art project is allowed to occupy one third of the Management section. Madness. AReasonablePerson (talk) 06:46, 29 April 2021 (UTC)

@AReasonablePerson: Read the policy, which clearly isn't madness, but what makes sense in an encyclopedia (not a self-help book). If you think your links, by policy, are permitted, you should re-add them. I removed them not based on their content, which may or may not be relevant (I haven't perused them), but based on your edit summary, which suggested a reason for adding them that was not in accordance with policy.--Nø (talk) 14:09, 29 April 2021 (UTC)

Thalamic achromatopsia

This has been a type of acquired achromatopsia since Aug 31, 2008 (User:Steamboat_Jim). There has been no edits to it. I tried to find a source for this, but can't find any mention of "Thalamic Achromatopsia" and virtually nothing of any CVD stemming from damage to the thalamus. I am inclined to remove this. Curran919 (talk) 14:44, 14 September 2022 (UTC)

After preforming some more research and finding nothing, I am removing this. Even if it exists, it is not evident why it needs to be differentiated from cerebral achromatopsia for the purposes of this article. Curran919 (talk) 12:58, 21 October 2022 (UTC)

Circular Redirection

The Main article link for Gene therapy is circular. When you click it, it brings you to the section for Achromatopsia, which then says the main article link for it is Achromatopsia/Gene therapy. There is no existing main article. OneSmallStepForMan (talk) 07:07, 7 March 2024 (UTC)