Acromatopsia

1. Achromatopsia Stephanie

2. Achromatopsia is first noticed in children around six months of age by their photophobic activity and their nystagmus.

3. Nystagmus becomes less noticeable with age but the other symptoms of the syndrome become more relevant at school age. Visual acuity and stability of the eye motions generally improve during the first 6 to 7 years of life but they remain near 20/200. The congenital forms of the disorder are considered stationary and do not worsen with age.

4. The symptoms of Achromatopsia The four symptoms associated with Achromatopsia/ D yschromatopsia are: Amblyopia – lazy eye Hemeralopia- unable to see clearly in bright light Nystagmus- involuntary eye movement Iris- eyes colour Photophobia- dislike to bright light

5. What happens if you have A chromatopsia? Some children are born with cone photoreceptors that do not work correctly. This usually leads to blurred vision, no colour vision or a dislike to bright light, which is called photophobia. The medical word for colour is ' chromat '. If 'A' is placed at the beginning of a word, it changes the word to mean 'without' or 'no'.

6. Achromatopsia means to see 'without colour ' or 'no colour‘. Achromatopsia means seeing in only one colour using rod photoreceptors. The condition does not get any worse as the child grows up. Because of this, it is often described as a 'stationary disease'.

7. Achromatopsia, Rod Monochromatism and Stationary Cone Dystrophy do all refer to the same eye condition. They mean the same thing in different words.

8. What is the cause of Achromatopsia? Achromatopsia happens when your genes have a misprint in the chemical alphabet. This means a small part of the body may not work correctly. Most cases of Achromatopsia occur by chance but occasionally the condition can occur as a result of the parents of the child being cousins or even a more distant relative.

9. How does Achromatopsia affect the way a child sees? Achromatopsia can affect children in different ways. Some children have an 'incomplete' or 'partial' kind of Achromatopsia. These children have slightly better vision when they grow up.

10. All young children with any kind of Achromatopsia feel their vision to be normal. At first they assume that everyone else has vision the same as their own, as they have never known anything else. They do not realise that other people see things differently.

11. Most children with Achromatopsia can still see well in the outside bit of vision, away from the centre. They usually have no problem getting around although reading, recognising faces and seeing small toys can be difficult.

12. How you see… A curved window called the cornea first focuses the light. The light then passes through a hole called the pupil. A circle of muscle called the iris surrounds the pupil. The iris is the coloured part of the eye. The light is then focused onto the back of the eye by a lens. Tiny light sensitive patches cover the back of the eye. These photoreceptors collect information about the visual world. There are two types of photoreceptors named by their shape when looked at in fine detail. They are called 'rods' and 'cones'.

13. If the rods and cones in your eyes don’t work properly you will possibly have Achromatopsia or a similar disease.

14. What can be done to help A chromatopsia? To cope with their hypersensitivity to light outdoors, some people wear very dark glasses they come in all sorts of colours for example: red, black, grey, brown or orange Some people wear wraparound sunglasses or wear black lenses mounted in standard frames with opaque side shields attached. You can also get tinted contact lenses, which are used outdoors with sunglasses.

15. Achromatopsia is a genetic disease in the eyes and it is not infectious. There is only one prevention to Achromatopsia which is your parent not being related. The disease can’t be spread.

16. THE END

17. Bibliography http://www.viscotland.org.uk / http:// en.wikipedia.org/wiki/Achromatopia