Question 1

what does achromatopsia affect?

Accepted Answer

Color vision trouble: I assume you are talkng about your troubled vision with with color-perception? It is complex genetic disorder which current has no cure. Treatment is often difficult and follow-up with a specialist is needed. Since 2003, there is a cybernetic device called eyeborg that allows people to perceive colour through sound waves. Check it out. Cosult your doc. Good luck to you.

Question 2

i've achromatopsia, which chromosome is affected?

Accepted Answer

Several: Rod monochromatism is most common form of achromatopsia, inherited as autosomal recessive condition; it can be can be caused by more than one gene mutation. So far, mutations or variants of any of 4 genes, cnga3, cngb3,  gnat2 and recently pde6c, have been linked to each causing rod monochromatism. These 4 genes appear to account for about 79% of cases of rod monochromatism. See comment below—>.

Question 3

good tips for management for achromatopsia in school?

Accepted Answer

Color vision trouble: I assume you are talkng about your troubled vision with with color-perception? It is complex genetic disorder which current has no cure. Treatment is often difficult and follow-up with a specialist is needed. Since 2003, there is a cybernetic device called eyeborg that allows people to perceive colour through sound waves. Check it out. Cosult your doc. Good luck to you.

Question 4

are there any decent natural treatments for achromatopsia?

Accepted Answer

No: Having a child with a visual handicap is difficult enough without making yourself the prey of unscientific practitioners. This is a group of genetic diseases that interfere with eye function, including all color perception. Instead, familiarized yourself with what is available actually to help junior -- including the "eyeborg", a device that allows color recognition through sound waves.

Question 5

does anyone know if there is a prenatal test for the disease achromatopsia or colorblindess?

Accepted Answer

No: There is not a test available for this.  I would recommend discussions with a geneticist before conception to learn the risk of passing the gene on if that is a concern of yours.

Question 6

do people with complete achromatopsia have poor vision?

Accepted Answer

Yes: Complete achromatopsia is a rare deficiency in total color perception which unlike all other forms of color blindness, comes with a diminished photoreceptor count leading to poor vision.  This is inherited and unfortunately cannot be fixed with any known treatment.

Question 7

does a genetic test exist for the disease achromatopsia, or colorblindess?

Accepted Answer

Yes: Mutations in one of these several genes will cause colorblindness. These are autosomal recessive mutations. The genes are: achm2-alpha subunit of the cone photoreceptor cgmp-gated cation channel, on chromosome 2q11; achm3- cngb3 gene,  the beta subunit of the cone cyclic nucleotide-gated cation channel, on chromosome 8q21;
achm4- gnat2 gene, Alpha subunit of cone transducing, on chromosome 1p13.

Question 8

i am married in 1 year no children en problem in my health would you eat that type of food can be eat him in my husband and me?

Accepted Answer

Chocolate : This is not scientific but neither is having babies!   Try anything chocolate.   Eat romantic foods.   Avoid alcohol and stimulants.  Relax.  Enjoy being married without children.   The more you relax and enjoy your spouse the better your marriage will be and the more prepared you we be to be a parent.  You are learning patience and you will need it!   OB doctors have solutions for you when wanted

Question 9

i can have children?

Accepted Answer

Yes: Although fertility decreases as you get older, the effect is not particularly noticeable until your 40's.  If you have been trying without success then you need to be checked.

Question 10

can children have erctions?

Accepted Answer

Yes: It is possible from the newborn period through life.

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Doctor answers about:

Achromatopsia in children

A member asked:

What does achromatopsia affect?

A member asked:

I've achromatopsia, which chromosome is affected?

A member asked:

Good tips for management for achromatopsia in school?

A member asked:

Are there any decent natural treatments for achromatopsia?

A member asked:

Does anyone know if there is a prenatal test for the disease achromatopsia or colorblindess?

A member asked:

Do people with complete achromatopsia have poor vision?

A member asked:

Does a genetic test exist for the disease achromatopsia, or colorblindess?

A member asked:

I am married in 1 year no children en problem in my health would you eat that type of food can be eat him in my husband and me?

A member asked:

I can have children?

A member asked:

Can children have erctions?

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