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Achromatopsia

Achromatopsia (ACHM) is a collection of visual issues that appear together, the most distinct being complete colorblindness. ACHM can be congenital when it is caused by a genetic mutation. ACHM can also be acquired due to damage to the thalamus or cerebral cortex.

 

Acquired ACHM can occur for a multitude of reasons. Head trauma can cause the thalamus, which receives information for the optic nerve, and the cerebral cortex, which is responsible for being focused and aware of what the eyes are observing, to be damaged. Hemorrhaging or tumors have a similar effect.

 

Congenital achromatopsia is much more common that its acquired counterpart. Symptoms are present at birth but the syndrome may not be noticed until the child is able to communicate. The first symptom usually noticed is nystagmus: involuntary eye movements. In the case of ACHM, the eye movements tend to be long side-to-side swings at a low frequency. This movement decreases as the patient ages.

 

Unfortunately, most other symptoms of achromatopsia tend to worsen with age. By the time the patient is in elementary school, it is likely that their visual acuity has decreased to 20/200, which is considered legal blindness in the US. After this period, vision tends to stabilize. The patient may also develop amblyopia, which causes the brain to ignore the image captured by the eye because it is so impaired.

 

Also, there is the achromatopia, the lack of the ability to perceive color. In congenital ACHM, this is attributed to the dystrophy of the retina’s cones, the part of the eye that interprets color. The retina cannot send electrical signals to the brain that humans need to see color. In acquired ACHM, the cause of the color blindness is most commonly due to the brain unable to interpret the electrical signals sent by the retina. Most of those with achromatopsia have full achromatopia causing them to see only in black, white, and gray. Depending on the level of achromatopsia, some patients can see some color under certain conditions; others only have a dulled sense of color.

 

Iris deficiencies are also common. They can cause the pupil to be unable to adapt to changing light.  Because of this, along with the abnormalities of the retina’s cones, many achromats are hemeralopic, also known as day blindness. In some cases, natural sunlight alone is stong enough to make a patient completely unable to see. Because of this, many achromats avoid light and prefer to be out at dusk. Patients maintain their low light vision and can possibly to see color when it’s dark.

 

There is no cure for achromatopsia. Genetic manipulation to cure congenital ACHM has been mildly successful on animals, but has yet to begin human trials. In some cases, treating the underlying cause can lessen ACHM’s symptoms, but in many cases the effects are permanent. Sunglasses or specially made eyeglasses can be used to help the patient cope with daytime or bright light. Some equipment is available that turns color into sound that plays in the patient’s ear depending on which object they are looking at.