Achromatopsia is a basically color blindness. it is a geneticaly disease, it can't be spread.

1. Jaival Sheth
T.Y. B. Optom

2. CONTAINS
Definition
Etiology
Visual Acuity & Visual Fields
Ocular Signs & Symptom
Adjunct Testing
Prognosis

3. Achromatopsia is a hereditary condition in which
the cones have not developed properly.
There are two types of Achromatopsia.
1. Rod monochromatism (color blindness)
2. Blue cone monochromatism (loss of red & green
cones)

4. Rod monochromatism is the most common form of
Achromatopsia and is transmitted as an autosomal
recessive trait.
Blue cone monochromatism is transmitted as an X
– linked recessive inherited pattern & Symptoms
tend to be milder than with rod monochromatism.

6. This hereditary condition is found in 3 of 1,00,000
males.
Occurrence in females is slightly less.
In normal eyes there are 6 million cone cells and
100 million rod cells.
Achromatopsia is a genetic disease in the eyes and
it is not infectious. This disease can’t be spread.

7. Distance visual acuity ranges from 6/18 to 6/60.
Vision is somewhat better at near distances and in
dim illumination and worse in bright illumination.
Visual fields are usually normal but can be slightly
constricted.
Particularly to colors.

8. Achromatopsia, results in reduced central acuity
in bright ligh, pronounced decrease in color
perception, and photophobia.
Pendular nystagmus also results from the
diminished acuity and may decrease at near.
Nystagmus & Photophobia may diminish after the
age of 15 years.

9. Pupils react sluggishly to light and paradoxical
responses have been reported during dark
adaptation.

10. Electrodiagnostic testing reveals normal electro-
oculogram (EOG) and scotopic.
Electroretinogram (ERG) responses and subnormal
photopic ERG rsponses.
Color testing, with a D-15 test or Nagel
anomaloscope, is helpful in diagnosing this
condition.

11. Blue monochromat plates can be used to
distinguish rod monochromatism from blue
monochromatism.
Fluorescein angiography (FA) may show mild
hyper-fluorescence when disturbance of RPE is
present.

12. The prognosis for rod monochromatism is favorable
beacause it is a non-progressive condition.
Nystagmus and photophobia may decrease by mid
teenage years; however, diminished central acuity
remains.