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 need a refill on my medication?

Accepted Answer

So call your doc: This is the HT public information site.We are thousands of volunteer docs based primarily in the US who answer medical questions.We do not offer treatments. State medical boards require a physician/patient relationship,a retrievable record,recent exam with vital signs for prescribing.Failure to do so can lead to loss or restriction of license. It may seem minor to you but it is not.

Question 9

i need refills on my medications?

Accepted Answer

Not here: For that you will likely need the prime service of healthtap. Easier to call your pop imo

Question 10

should i be on medication for a gfr of 38?

Accepted Answer

Nephrologist: You ought consult a kidney specialist to ascertain the cause and adjust your diet. Other treatment, if any, would depend on the cause of your kidney disorder.

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Achromatopsia medication

A member asked:

What does achromatopsia affect?

A member asked:

I've achromatopsia, which chromosome is affected?

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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 need a refill on my medication?

A member asked:

I need refills on my medications?

A member asked:

Should i be on medication for a gfr of 38?

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