2. Congenital Defects Flashcards

1
Q

What is the simplest meaning of congenital defects?

A

Inherited colour vision defects. Most common cause of CV defects.

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2
Q

When are congenital defects onset?

A

At birth

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3
Q

How are 2 eyes affected in congenital defects?

A

Both eyes are affected equally

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4
Q

Does congenital defects affect VA and visual fields?

A

No, expect monochromats- because the cause of congenital defects is in the photoreceptor affecting visual pigments

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5
Q

What does Dichromat mean?

A

Cone absent or not functioning.
people with this condition will even Confuse bright, fully saturated colours.

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6
Q

What does anomalous trichromat mean?

A

All 3 cones are present, but the sensitivity of 1 of the 3 cones is altered.

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7
Q

What are the defects called that affect L,M,S Cones

A

Protan: Affect L cone
Deuteran: Affect M cones
Tritan: Affect S cones

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8
Q

What is protanopia?

A

L cone is absent
Patients unable to distinguish between red-yellow-green.
Patients can only distinguish between the colours based on brightness only.
Reds may be confused with black or dark grey.

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9
Q

What is deuteranopia?

A

M cone is absent
Patients unable to distinguish between red-yellow-green.

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10
Q

Deuteranopia has what advantage over Protanopia?

A

No dimming problems because they have sensitivity across the whole spectrum because they have S and L cones.

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11
Q

What is tritanopia?

A

S cone is absent
Patients unable to distinguish between blue-green-yellow.

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12
Q

How is tritanopia carried genetically?

A

Not carried on the X chromosomes but on autosomes.

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13
Q

What is anomalous trichomats?

A

Patients have all 3 cones, but 1 has abnormal sensitivity. This is the most common defect seen in practice.

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14
Q

What will anomalous trichomats confuse?

A

Confuse pale desaturated colours, but not bright and saturated ones

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15
Q

What is the main congenital colour defect? - (which colours?)

A

Mainly red- green

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16
Q

Male vs females, who has a higher percentage of congenital defects?

A

Males

17
Q

Final colour vision analysis occurs in what part in the cortex?

A

V4

18
Q

What problems would someone with protanopia face when driving?

A

May not be able to see red traffic light

19
Q

Which cones are present in the fovea (in the retina)

A

M and L cones

20
Q

What is monochromacy?

A

When only 1 type of photoreceptor is present.

21
Q

What is Rod (typical) monochromats?

A

No cones present

22
Q

What is cone (atypical) monochromats?

A

Only one cone present

23
Q

Are cone (atypical) patients monochromats?

A

Yes

24
Q

Which patients have better VA- Typical or Atypical?

A

Atypical- because they have 1 type of cone present.

25
Q

Typical or Atypical, which patients are likely to have photophobia and nystagmus?

A

Typical

26
Q

What causes anomalous trichomats?

A

1 out of the 3 cones have altered sensitivity compared to normal. The sensitivity of the abnormal curve is shifted closer to the other curves- the closer the curves are the more serious the defect is.

27
Q

Describe the type and severity of congenital CV defects?

A

Constant

28
Q

What are the 3 types of congenital defects?

A
  1. Monochromat
  2. Dichromat
  3. Anomalous trichromat
29
Q

Protan and deutan defects are also known as?

A

Red- green defects