Achromatopsia

En Espaol Read in Chinese

What is Achromatopsia?
Achromatopsia is a non-progressive and hereditary visual disorder which is characterized by
decreased vision, light sensitivity, and the absence of color vision. In the U.S. it affects about 1 in
every 33,000 people.

How does Achromatopsia affect vision?

Achromatopsia is sometimes called Day Blindness, as these children see better in subdued light.
Children with complete Achromatopsia will have reduced vision (20/200 or less) due to an abnormality
of the retina. They also have no color vision, sensitivity to light (photophobia) and the presence of
nystagmus (shaking of the eyes). Children with incomplete or partial Achromatopsia may have better
vision (20/120 to 20/80).

How common is Achromatopsia?

This condition affects approximately one in 40,000 live births. Its prevalence varies in different parts of
the world. Because there is a genetic link, it is more common in regions where there is a high rate of
consanguineous marriages (marriages between relatives) and in the eastern Pacific islands of
Pingelap (see the book, The Island of the Colourblind by Dr Oliver Sacks).

Are red-green color blindness and Achromatopsia the same condition?

No, red-green color blindness is very common as it affects eight percent of all males. People with red-
green color blindness have otherwise normal visual acuity and they do not have complete lack of
color perception.

What causes Achromatopsia?

Achromatopsia is caused by an abnormality of the retina, that portion of the eye responsible for
making the picture. It is analogous to the film in a camera. In the retina, there are three types of cells
called cones that are responsible for normal color vision. These are the red cones, the green cones,
and the blue cones. A balanced distribution of these cells is necessary for normal color vision. A child
born with non-functioning cones will have achromatopsia. Sometimes children have a reduced
complement of the cones, in which case they will have partial or incomplete achromatopsia.
Achromatopsia is an inherited condition and so far four genes (genetic markers found on
chromosomes) are known to be associated with this condition. The four chromosomes that may have
changes associated with achromatopsia are chromosome 14, chromosome 8q21- q22, chromosome
2q11 and chromosome 10q24.

What are the chances of having more children with Achromatopsia?

The achromatopsia gene is inherited from both the mother and father who carry the diseased gene on
one of two paired chromosomes. The parents do not develop the disease as this requires the genes
on both of the paired chromosomes for the individual to be affected (this is called autosomal recessive
inheritance). This gives a family with one affected child a 25% (1 in 4) risk of each pregnancy carrying
an affected offspring. There would also be a 50% chance that a child could be a carrier.

How is the diagnosis made?

The diagnosis will be made by your ophthalmologist. Initially, symptoms such as light sensitivity and
reduced vision will provide clues essential to the diagnosis. The retinal examination may in fact be
normal. The color vision tests commonly performed in the clinic are the Ishihara pseudoisochromatic
tests, H-R-R tests and the City University tests. The diagnosis can be confirmed by a specialized test
called electroretinography (ERG). Also, new advances in retinal imaging gives Ophthalmologists
better tools to evaluate the condition.

What treatment is available for Achromatopsia?

Currently there is no cure for achromatopsia. Research on gene therapy is ongoing and may lead to
clinical treatments in the future. Animal models of achromatopsia in dogs and mice have shown
promising results in restoring some cone function in the retina. Children should be checked for
refractive errors (need for glasses). Prescribing glasses to correct refractive conditions such as far-
sightedness (hyperopia), near-sightedness (myopia) and astigmatism can improve the vision
somewhat but will not restore normal levels of vision. Red colored lenses help reduce the sensitivity to
light and thus enhance visual functioning. NoIR (injection-molded) plastic wrap-around glasses have a
top shield that covers the top of a prescription frame as well as broad side shields which is important
since stray light can be disabling. Examples are Corning Lenses: CPF 550 lenses (5% transmission,
darkened) and CPF 550XD lenses (4% transmission, darkened). These lenses are available through
Winchester Optical (www.winoptical.com/medical/ecporder.htm). A newer device known as an
eyeborg can help people with no color vision to perceive color through sound waves. Artist Neil
Harbisson who suffered from achromatopsia was one of the first to use this device.
How will this condition affect my childs schooling?
With adequate help from teachers for the visually impaired, children with achromatopsia are usually
able to attend mainstream schools. Front seat placement, large print books, and magnifying devices
can be very helpful. A low vision evaluation will be necessary before school begins. More severely
affected individuals may benefit from services available in schools specifically designated for the
visually impaired.

REFERENCES :

http://www.aapos.org/terms/conditions/10. Assessed in 1st March 2015 at 13.00 WIB