12. CVD - Monochromacy Flashcards

1
Q

What is the principle of univariance?

A

A photoreceptor can only count the number of photons it absorbs and cannot tell the wavelength. Therefore, single cones are colour blind.

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2
Q

How do metamers work with just 1 photoreceptor type (considering a test wavelength with sensitivity of 10)?

  • Two different wavelengths with sensitivities that ... will give a match
  • Different wavelength with sensitivity of ... will give a match
  • A wavelength with ... sensitivity can have its ... cranked up to give a match
  • All in all, need only ... to match
A

How do metamers work with just 1 photoreceptor type (considering a test wavelength with sensitivity of 10)?

  • Two different wavelengths with sensitivities that add up to 10 will give a match
  • Different wavelength with sensitivity of 10 will give a match
  • A wavelength with lower sensitivity can have its intensity cranked up to give a match
  • All in all, need only 1 wavelength to match
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3
Q

What are the three kinds of monochromacy and their Stiles’ notation?

A
  • Typical (rod) monochromacy, π0
  • ‘Blue cone’ monochromacy, π1
  • Atypical monochromacy
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4
Q

What are the typical signs of typical monochromacy?

  • Lowered ... without ...
  • ... - blind in ... without ...
  • ... - ... on the fovea, eyes move to ...
  • Reduced sensitivity to ... - rod peak sens is ... nm
  • ...
  • Other ... may be affected
A

What are the typical signs of typical monochromacy?

  • Lowered VA without obvious explanation
  • Painless photophobia - blind in photopic conditions without pain
  • Nystagmus - rod free region on the fovea, eyes move to fixate constantly
  • Reduced sensitivity to red light - rod peak sens is 540 nm
  • Total colour blindness
  • Other family members may be affected
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5
Q

Explain Larsen’s case (1918) and Holm and Lodberg’s (1940) findings about typical monochromacy.

Mikkeline Neilson had 6/... VA and ... from birth. Her luminous efficiency (Vλ) was ...; reading was best at ... and she ... in daylight. She had normal ... but did know .... ... were affects. From ....

Holm and Lodberg found that ... has ...x the global population rate due to ... (1:... rate).

A

Explain Larsen’s case (1918) and Holm and Lodberg’s (1940) findings about typical monochromacy.

Mikkeline Neilson had 6/60 VA and nystagmus from birth. Her luminous efficiency (Vλ) was scotopic; reading was best at dusk and she shaded eyes in daylight. She had normal dark adaptation but did know what colour was. Many siblings were affects. From Island of Fur.

Holm and Lodberg found that Island of Fur has 4000x the global population rate due to consanguinity (1:70 rate).

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6
Q

What were the following researchers’ findings on typical monochromacy?

Wright (1947) measured Vλ and found it to be ....

Louise Sloan (1954) studied ... cases to give more information about the characteristics.

Knut Nordby is a vision researcher with ... and studied himself.

A

What were the following researchers’ findings on typical monochromacy?

Wright (1947) measured Vλ and found it to be scotopic.

Louise Sloan (1954) studied 19 cases to give more information about the characteristics.

Knut Nordby is a vision researcher with typical monochromacy and studied himself.

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7
Q

What did the following researchers find about VA in typical monochromacy?

Hecht (1948) found logVA as a function of logretinal illumination, resulting in a VA of 6/... and no ... (... case).

Sloan (1954) studied ... cases and found VA to be 6/... to 6/... at low ... which reduces as ....

Blackwell and Blackwell (1961) studied ... cases and found VA to be 6/... and it decreases at ....

A

What did the following researchers find about VA in typical monochromacy?

Hecht (1948) found logVA as a function of* log*retinal illumination, resulting in a VA of 6/36 and no cone branch (1 case).

Sloan (1954) studied 19 cases and found VA to be 6/24 to 6/60 at low retinal illuminances which reduces as illuminance increases.

Blackwell and Blackwell (1961) studied 3 cases and found VA to be 6/18 and it decreases at higher illuminances.

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8
Q

What are the signs of photophobia in typical monochromacy?

..., ..., see better in ..., ..., ..., wears ....

Photophobia is ... but not ..., implies ... might be occurring.

A

What are the signs of photophobia in typical monochromacy?

Painless, aversion to light, see better in dim light, blinking, squints, wears sunglasses.

Photophobia is common but not invariable, implies adaptation might be occurring.

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9
Q

What are the signs of nystagmus in typical monochromacy?

It’s ... but not .... ... patients seem to show it but not ...; seems to indicate ... as they might ....

A

What are the signs of nystagmus in typical monochromacy?

It’s common but not universal. Younger patients seem to show it but not older; seems to indicate adaptation as they might choose a new part of the retina to fixate with.

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10
Q

Is myopia associated with typical monochromacy?

A

No. Early reports implied an association based on squinting and preference for near work.

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11
Q

Colour vision in monochromats.

... pseudo-isochromatic plates; give ... responses.

Seem to order colours in the Farnsworth D15 ...; they place them in order of ....

Nagel Anomaloscope gives a ... for monochromats (on yellow vs red-green match graph), implying ... is even less ... in monochromats than ....

A

Colour vision in monochromats.

Fail pseudo-isochromatic plates; give irregular responses.

Seem to order colours in the Farnsworth D15 randomly; they place them in order of scotopic reflectance.

Nagel Anomaloscope gives a steeper gradient for monochromats (on yellow vs red-green match graph), implying red is even less effective in monochromats than protanopes.

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12
Q

Inheritance pattern of typical rod monochromacy

Both sexes are affected ... and an affected person ... transmits the disorder to their offspring. Incidence is about 1:.... It follows an ... inheritance pattern.

A

Inheritance pattern of typical rod monochromacy

Both sexes are affected equally and an affected person rarely transmits the disorder to their offspring. Incidence is about 1:30,000. It follows an autosomal recessive inheritance pattern.

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13
Q

What are the two main mechanisms suggested for typical monochromacy?

A

Absence of cones/pure rod theory
Cones not functioning/rod only theory

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14
Q

What do each of these studies suggest about the anatomical changes in typical monochromacy?

Larsen’s case (1921) found that ... were present in the retina and the ... was normal; suggesting the ... theory is incorrect.

Harrison, Hoffnagel, and Hayward (1960) found ... in a 19year old male achromat’s eyes.

Falls, Wolter, and Alpern’s (1965) case found ..., a decrease in ..., and an ... in a woman’s enucleated eye dye to ...; which may have made changes to the retina.

Glickstein and Heath’s (1975) case found no ... and only ...-...% of the normal ... throughout the retina. ... had abnormal shape near fovea.

A

What do each of these studies suggest about the anatomical changes in typical monochromacy?

Larsen’s case (1921) found that cones were present in the retina and the ratio of rods:cones was normal; suggesting the pure rod theory is incorrect.

Harrison, Hoffnagel, and Hayward (1960) found imperfectly shaped squat cone-like units in a 19year old male achromat’s eyes.

Falls, Wolter, and Alpern’s (1965) case found few but well developed cones, a decrease in number of extra-foveal cones, and an abnormal cone shape in a woman’s enucleated eye dye to glaucoma; which may have made changes to the retina.

Glickstein and Heath’s (1975) case found no photoreceptors and only 5-10% of the normal cones throughout the retina. Cones had abnormal shape near fovea.

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15
Q

Are cones present but not functioning in typical monochromacy?

  • Difficult to find ... in all cases
  • VA is too high for ... - expect a VA of 6/...-6/... but getting 6/...-6/...
  • Dark adaptation shows ... in some cases
  • Increment threshold data suggests ...
  • CFF data shows ...
  • .../... evident - ... are not ...

All of this suggests that cones are present but outer segments contain ... or a ....

A

Are cones present but not functioning in typical monochromacy?

  • Difficult to find central scotoma in all cases
  • VA is too high for pure rod function - expect a VA of 6/36-6/60 but getting 6/18-6/60
  • Dark adaptation shows rod-cone break in some cases
  • Increment threshold data suggests rod-cone break
  • CFF data shows rod-cone break
  • Stiles-Crawford/direction sensitivity evident - rods are not direction sensitive

All of this suggests that cones are present but outer segments contain rhodopsin or a visual pigment which has an action spectrum that is indistinguishable from rhodopsin.

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16
Q

“Blue cone” monochromacy

Walls and Heath (1954) suggest that typical monochromacy might be due to ....

Blackwell and Blackwell (1961) found evidence of ... in 5/9 cases. As they increased light levels towards scotopic levels, the peak sensitivity wavelength ..., which is odd as we usually expect a ....

Pedigrees show ... inheritance pattern as all cases have been ... and there were only minor vision anomalies reported in ....

All had alterations in the ... that’s responsible for production of ... and the ... was only produced in ...% of ....

A

“Blue cone” monochromacy

Walls and Heath (1954) suggest that typical monochromacy might be due to absence of red and green cones.
Blackwell and Blackwell (1961) found evidence of blue/S cones in 5/9 cases. As they increased light levels towards scotopic levels, the peak sensitivity wavelength shifted towards blue cones, which is odd as we usually expect a shift towards red cones.

Pedigrees show X-linked recessive inheritance pattern as all cases have been males and there were only minor vision anomalies reported in female carriers.

All had alterations in the X-chromosome gene cluster that’s responsible for production of normal L and M cone pigment and the S cone opsin was only produced in 10% of cones.

17
Q

Clinical characteristics of “blue cone” monochromacy

... but have ... at mesopic levels. They have a ... for ... in photopic conditions. ... is present in some but not all cases. They have reduced ... similar to .... Very difficult to differentiate from ... clinically.

A

Clinical characteristics of “blue cone” monochromacy

Colour blind but have rudimentry dichromacy at mesopic levels. They have a reduced luminosity for red in photopic conditions. Nystagmus is present in some but not all cases. They have reduced VA similar to typical rod monochromacy. Very difficult to differentiate from typical monochromacy clinically.

18
Q

Cone (atypical) monochromacy

... with ... and without ... and .... Very rare with rate of 1:....
Could be a ..., e.g. a combination of ... and ... as luminous efficiency matches a ... fundamental (in one case, Pitt 1944). Weale (1953) disagrees with the correspondance as if this were true, the incidence should be 1:... and he also found ... after retinal densitometry.
Perhaps cone (atypical) monochromacy is due to ... as opposed to ...?

Hard to tell anything as this is way too rare.

A

Cone (atypical) monochromacy

Colour blind with normal VA and without photophobia and nystagmus. Very rare with rate of 1:1,000,000.
Could be a double dichromacy, e.g. a combination of protanopia and tritanopia as luminous efficiency matches a green fundamental (in one case, Pitt 1944). Weale (1953) disagrees with the correspondance as if this were true, the incidence should be 1:100,000,000 and he also found all three photopigments after retinal densitometry.
Perhaps cone (atypical) monochromacy is due to neural failure as opposed to receptor loss?

Hard to tell anything as this is way too rare.