Blue Cone Monochromacy - Families

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Renata left a comment for Hila Koren
"Welcome Hila ! This Forum is about Blue Cone Monochromacy, I received your email. Thank you for joining us ! Renata"
Hila Koren is now a member of BCMfamilies
G di Silvestri replied to Barbara Sergent's discussion Magenta Lenses
"Hi Carol, I'm considering a trip to Indiana as well to try both magenta contacts and sunglasses. How you received any further input on your questions above and how was your son's experience? Thank you, Gary"
Nov 4
Renata left a comment for G di Silvestri
"Hi Welcome ! This forum is about Blue Cone Monochromacy. Thank you for joining us ! Renata"
Nov 4
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Marsha Slone replied to Dean Monthei's discussion BCM Kids and Working Experience
"Love this post— you are awesome."
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Debbi Taylor left a comment for Aidan Bane
"Welcome Aiden!!"
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Renata replied to Dean Monthei's discussion BCM Kids and Working Experience
"Thank you Dean ! Beautiful post ! My 3 boys read it."
Oct 19
Renata left a comment for Victoria watt
"Hi Victoria, Welcome ! Our forum is about Blue Cone monochromacy, a rare retinal disease. Only males are affected and symptoms are: low vision, photophobia, infantile nystagmus, colorblindness. Some adults have nystagmus. Please let me know if you…"
Oct 19
Renata left a comment for Lorna Finch
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Marylee Mohn replied to Dean Monthei's discussion BCM Kids and Working Experience
"Dean, once again I'm so grateful you are part of this community. Wow, what a great post!"
Oct 18
Leah Cavitt and Dean Monthei are now friends
Oct 18
Dean Monthei posted a discussion

BCM Kids and Working Experience

This is just a recommendation from someone with BCM to try and have your kids with BCM (and those without BCM) get involved in working early if at all possible. It will help their self esteem and independence. BCM has quite a range of acuity and color vision so take this advice knowing you may have to adjust for your own child’s ability especially if they have any other medical issues. Just make sure you do not limit them more than they really need. I had around 20/100 vision when I was young.…See More
Oct 18
Victoria watt is now a member of BCMfamilies
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Oct 17
Dean Monthei replied to Dean Monthei's discussion Vision Resource Links
"Here are some additional links specifically for low vision. https://www.ocutech.com/low-vision-organizations/"
Oct 10
Dean Monthei posted a discussion

Vision Resource Links

The links below may be helpful (especially if you are in the US).When I went to school in the late 70s my college tuition and books were completely paid for by the Iowa Commission for the Blind.  I do not know what is available today but the links below are for a wide variety of services for all school ages.  There are two national groups for the blind, the American Federation of the Blind (AFB) and the National Federation for the Blind (NFB).  The NFB has college scholarships (see link…See More
Oct 10



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Build our no profit organization 18 Replies

Dear BCM families members,I found this linkhttp://www.rarediseases.org/patient-orgs/build-an-organd I'm thinking about the possibility to create ourown no-profit organization, what…Continue

Started by Renata in No Profit Organization for BCM. Last reply by Renata May 21.

Newsletter - summer 2015

Here you have our Summer 2015 Newsletter in english:…Continue

Started by Renata in No Profit Organization for BCM Aug 29, 2015.

Blue-Cone Monochromacy

Blue cone monochromatism is characterized by poor central vision and color discrimination, infantile nystagmus, and nearly normal retinal appearance. The psychophysiologic functions of both rods and blue cones are preserved (Lewis et al., 1987). The frequency of achromatopsia is said to be approximately 1 in 100,000 persons. The first detailed description is that given by Huddart (1777). The subject of that report 'could never do more than guess the name of any color; yet he could distinguish white from black, or black from any light or bright color...He had 2 brothers in the same circumstances as to sight; and 2 brothers and sisters who, as well as his parents, had nothing of this defect.' This disorder was previously interpreted as total colorblindness. Information presented by Spivey (1965) indicated that affected persons can see small blue objects on a large yellow field and vice versa. These cases have been variously called partial complete colorblindness, or incomplete achromatopsia. Blackwell and Blackwell (1961) have described achromatopic families in which a few blue cones seemed to be present. See comments of Alpern et al. (1960). Sloan (1964) also had evidence of the presence of a few red cones in cases of otherwise complete achromatopsia. Bromley (1974) showed me a large kindred with this disorder in a typical X-linked recessive pattern.

Lewis et al. (1987) showed linkage of blue cone monochromatism to 2 DNA markers (DXS15 and DXS52) that map in the Xq28 area. Southern blot analysis with clones derived from the red (303900) and green (303800) cone pigment genes showed loss or rearrangement of the cone pigment cluster, but in none of the 3 multigenerational families studied were all pigment genes missing. In all 12 families studied by Nathans et al. (1989), alterations were observed in the red and green visual pigment gene cluster. The alterations fell into 2 classes: one class arose from the wildtype by a 2-step pathway consisting of unequal homologous recombination and point mutation; the second class arose by nonhomologous deletion of genomic DNA adjacent to the red and green pigment gene cluster. These deletions defined a 579-bp region located 4 kb upstream of the red pigment gene and 43 kb upstream of the nearest green pigment gene; this region is essential for the activity of both pigment genes. Most persons with blue cone monochromacy have retinas that appear normal, but, in some, a progressive central retinal dystrophy is observed as they grow older. The dystrophic region corresponds to the fovea, the cone-rich area responsible for high acuity vision, and the immediately surrounding retina. Those individuals with the 2-step alteration presumably started out as dichromats in whom homologous unequal recombination had reduced to 1 the number of genes in the tandem array of cone pigment genes. This is a finding in approximately 1% of Caucasian X chromosomes. In the second step, a mutation inactivated the remaining gene; Nathans et al. (1989) found 2 examples of point mutations. Nathans et al. (1989) made an analogy to 2 forms of thalassemia in which absence of distant upstream sequences results in loss (in cis) of beta-globin gene expression. Within the deleted region are clusters of erythroid-specific deoxyribonuclease I 'hypersensitivity' sites. It has been found in transgenic mice that fragments from these sites confer on a linked human beta-globin gene uniformly high, tissue-specific expression independent of chromosomal position. These observations support a model in which distant sequences act to coordinate tissue-specific gene expression. The fact that 1 patient developed a slowly progressive central retinal dystrophy suggested to Nathans et al. (1989) that, by analogy, some peripheral retinal dystrophies may be caused by mutations in the genes encoding rhodopsin or other rod proteins.

Nathans et al. (1993) examined the tandem array of red and green cone pigment genes on the X chromosome. In 24 subjects, 8 genotypes were found that would be predicted to eliminate the function of all of the genes within the array. As observed in an earlier study, the rearrangements involved either deletion of a locus control region adjacent to the gene array or loss of function via homologous recombination and point mutation. In 15 probands who carried a single gene, an inactivating mutation, cys203 to arg (303800.0001), was found, and both visual pigment genes carried the mutation in 1 subject whose array had 2 genes. This mutation was also found in at least one of the visual pigment genes in 1 subject whose array had multiple genes and in 2 of 321 control subjects, suggesting that preexisting cys203-to-arg mutations constitute a reservoir of chromosomes that are predisposed to generate blue-cone-monochromat genotypes by unequal homologous recombination and/or gene conversion. Two other point mutations were identified: arg247 to ter in a subject with a single red-pigment gene, and pro307 to leu in a subject with a single 5-prime-red/3-prime-green hybrid gene. The observed heterogeneity of genotypes pointed to the existence of multiple 1- and 2-step mutational pathways to blue cone monochromacy.

Nathans et al. (1993) stated that 6 different deletions, ranging in size from 0.6 kb to 55 kb, had been found in, or adjacent to, otherwise typical red-green pigment gene arrays. All of these deletions encompassed a common region between 3.1 kb and 3.7 kb 5-prime of the array. Wang et al. (1992) reported the results of experiments in which sequences 5-prime of the red- and green-pigment array directed expression of a beta-galactosidase reporter gene in transgenic mice, indicating that the region between 3.1 kb and 3.7 kb 5-prime of the array functions as an essential activator of cone-specific gene expression. The existence of a form of blue cone monochromacy due to a change in the genome removed from the color vision genes themselves justifies the inclusion of an asterisked entry distinct from the entries for the CBD (GCP, 303800) and CBP (RCP, 303900) genes.

Blue Cone Monochromatism is a rare genetic disease. Red and green opsin genes OPN1L OPN1M. Xq28.



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