Achromatopsia A Congenital Eye PDF Print E-mail
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Achromatopsia (ACHM) is the incapability to make out or recognize color. Even though the term might refer to acquired disorders such as color agnosia and cerebral achromatopsia, it naturally refers to an autosomal recessive congenital color vision disorder, also called rod monochromacy and total congenital color blindness. Individuals with the congenital form of this disorder show complete absence of cone cell activity through electroretinography.

Signs and symptoms of Achromatopsia

  1. Photophobia
  2. Reddened eye, especially adjacent to the iris
  3. Ocular and per orbital pain
  4. Consensual photophobia (pain in affected eye when light is shone in unaffected eye)
  5. Blurred or cloudy vision
  6. White blood cells (leukocytes) (resulting in a grey or near-white haze) and protein (resulting in tiny white dots) in the anterior chamber, often called "cells and flare."
  7. Synechia (adhesion of iris to lens or cornea)

Causes of Achromatopsia
The two main causes of achromatopsia are –

  1. Congenital Achromatopsia -

The well-known causes of the congenital forms of achromatopsia are all due to malfunction of the retinal phototrzansduction pathway. In particular, this type of ACHM seems to consequence from the inability of cone cells to properly respond to light input by hyperpolarizing. Known genetic causes of this are mutations in the cone cell cyclic nucleotide-gated ion channels CNGA3 (ACHM2) and CNGB3 (ACHM3) as well as the cone cell transduction, GNAT2 (ACHM4).

  1. Acquired Achromatopsia -

Cerebral achromatopsia is a type of acquired color blindness that is caused by spoil to the cerebral cortex of the brain, rather than abnormalities in the cells of the eye's retina.

Complications of Achromatopsia

Complications of iritic may include the following: Cataract, glaucoma, corneal calcification, posterior uveitis, blindness, band keratopathy, and cystoids macular oedema.

Treatment
Usually there is no treatment to cure color deficiencies. Though, definite types of tinted filters and contact lenses may help an individual to discriminate different colors better. Optometrists can supply a singular red-tint contact lens to wear in the dominant eye. This may enable the wearer to pass color blindness tests for certain occupations. The National Eye Institute is doing research into treating/curing color blindness, and it is now required to donate 5% of its resources to this cause under instruction of the National Institutes of Health.

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Jane K. said:

Dear Dr. Alexander & Staff,

I am a bit cynical and have waited nearly 1 year to write to you. Time after time, for each visit, I read your glowing praises of satisfied patients and wondered if all those who chose the PermaClear surgery were having the same great results.

But now I can only speak for myself. Yes, the surgery was highly successful and truly (literally) changed my viewpoint. After all these months, my eyesight is what was both promised and delivered. Clear, crisp, unaided by glasses. I can see perfectly. Eleven months ago I faced the most difficult reading challenge of my life to voice a euology of my beloved Dad. It was only two weeks after my surgery and I did it, even tho I feared I had cried my eyes out during the service. Well, the lenses worked and didn't float away. A sincere, heartfelt thank you for doing your best for me and all those who trust in you. The eyes are the mirror of the soul and I'm so grateful mine can shine so brightly for all to see who I really am. One very happy patient, person and loving daughter.
 
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November 06, 2008
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