Congenital/Stationary Retinal Disease

1 Congenital/Stationary Retinal Disease

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Two very basic categories 2 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Two very basic categories 3 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

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? Three very basic categories 4 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism Three very basic categories 5 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

What doesMonochromatism it mean to say someone is a ‘trichromat’? It concerns performance on a color-matching test. In this test, the participant is askedRod to monochromatism match a test color by mixing primary-color lights (note--not mixing paints!). A trichromat requires three (hence the ‘tri-’) lights--one of short wavelength (aka blue), Blue-cone monochromatism one of medium wavelength (= green), and one of long (= red). (This is the normal state of color vision in humans.) 6 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

What does it mean to say someone is an ‘anomalous’ trichromat? 8 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

What does it mean to say someone is an ‘anomalous’ trichromat? It means he needs all three colored lights to do the matching, but that the relative intensities among the lights differs significantly from that employed by people with normal color vision (which color is abnormally intense is a function of what sort of anomalous trichromacy he has) 9 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

What does it mean to say someone is an ‘anomalous’ trichromat? It means he needs all three colored lights to do the matching, Dude, wussup with the gendered language? but that the relative intensities among the lights differs significantlyThe genetics relevant to anomalous color from that employed by people with normal color vision (which covisionlor are X-linked recessive, so the vast is abnormally intense is a function of what sort of anomalous majority of individuals with color deficiencies trichromacy he has) are males 10 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

What does it mean to say someone is an ‘anomalous’ trichromat? It means he needs all three colored lights to do the matching, Dude, wussup with the gendered language? but that the relative intensities among the lights differs significantlyThe genetics relevant to anomalous color from that employed by people with normal color vision (which covisionlor are predominantly X-linked recessive, is abnormally intense is a function of what sort of anomalous so the vast majority of individuals with color trichromacy he has) deficiencies are males (including yours truly) 11 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

What does it mean to say someone is a dichromat? It Monochromatismmeans that, on the color-matching test, he can match any test color using only two lights. (Which two depends upon the form of dichromacy, but the missing one is almost never blue.)

The fact that dichromats can match any color with two primaries indicates what about their cones? It indicates that his cones possess only two photopigments, not three as do trichromats 12 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

The fact that a dichromat can match any color with two primaries indicates what about his cones? It indicates that his cones possess only two photopigments, not three as do trichromats 13 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

The fact that a dichromat can match any color with only two primaries indicates what about his cones? It indicates that his cones possess only two photopigments, not three as do trichromats 14 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

The fact that a dichromat can match any color with only two primaries indicates what about his cones? It indicates his cones possess only two photopigments, not three as do the cones in trichromats 15 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

By what other name is monochromatism known? Achromatopsia

Does monochromatism/achromatopsia mean what I think it does? Yes--it is the state in which an individual can match any test color using just one color of light 16 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

By what other name is monochromatism known? Achromatopsia

Does monochromatism/achromatopsia mean what I think it does? Yes--it is the state in which an individual can match any test color using just one color of light 17 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

By what other name is monochromatism known? Achromatopsia

Does monochromatism/achromatopsia mean what I think it does? Yes--it is the state in which an individual can match any test color using just one color of light 18 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

By what other name is monochromatism known? Achromatopsia

Does monochromatism/achromatopsia mean what I think it does? Yes--it is the state in which an individual can match any test color using just one color of light 19 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

? The two types of monochromatism are… ? 20 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Rod monochromatism The two types of monochromatism are… Blue-cone monochromatism 21 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Classic presentation of rod monochromatism: --P oortwo words acuity and --N ystagmus and --P hotophobia 33 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Classic presentation of rod monochromatism: -- Poor acuity and -- Nystagmus and -- Photophobia 34 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism Rod monochromatism --Inheritance…AR Rod monochromatism --No cones present--true color blindness -- Nystagmus always present --VA range: 20/80–20/200 Blue-cone monochromatism --ERG: Why the broad range--Cone in VA? response: Absent Because the dz manifests--Rod response: partial expression Normal in some cases (ie, some pts will have a few functioning cones) 35 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Rod monochromatism Blue-cone monochromatism --Inheritance: X-linked Blue-cone monochromatism --Only blue cones present --Mimics…rod monochromatism --Diagnose via specialized…color ERG 37 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Rod monochromatism Blue-cone monochromatism --Inheritance: X-linked Blue-cone monochromatism --Only blueduh cones present --Mimics…rod monochromatism --Diagnose via specialized…color ERG 39 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Rod monochromatism Blue-cone monochromatism --Inheritance: X-linked Blue-cone monochromatism --Only blue cones present --VA usually about… --Diagnose via specialized…color ERG 41 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Rod monochromatism Blue-cone monochromatism --Inheritance: X-linked Blue-cone monochromatism --Only blue cones present --VA usually about…20/80 --Diagnose via specialized…color ERG Why is VA better than in many rod monochromats? Because all blue-cone monochromats have a set of functioning cones (specifically, the blue ones) 43 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Rod monochromatism Blue-cone monochromatism --Inheritance: X-linked Blue-cone monochromatism --Only blue cones present What are the findings of--VA color-ERG usually testing about… in 20/80 blue-cone monochromatism?--Diagnose via specialized…color ERG Perhaps unsurprisingly, findings include a normal blue-cone response along with absent or greatly attenuated green- and red-cone responses 47 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Rod monochromatism Blue-cone monochromatism --Inheritance: X-linked Blue-cone monochromatism --Only blue cones present --VA usually about…20/80 --Diagnose via specialized…color ERG

Classic presentation of blue-cone monochromatism: -- Poortwo wordsacuity and -- Nystagmus and -- 49 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Rod monochromatism Blue-cone monochromatism --Inheritance: X-linked Blue-cone monochromatism --Only blue cones present --VA usually about…20/80 --Diagnose via specialized…color ERG

Classic presentation of blue-cone monochromatism: -- Poor acuity and -- Nystagmus and (Yes, just like rod monochromatism) -- Photophobia 50 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism Speaking of conditions that present very early in life with poor VA, nystagmusRod and monochromatismphotophobia…While there are many, the others that should come first to mind are what? Blue-cone monochromatism --Rod monochromatism --Inheritance: X-linked --Blue-coneBlue-cone monochromatism monochromatism --Only blue cones present --? --VA usually about…20/80 --? --Diagnose via specialized…color ERG --?

Classic presentation of blue-cone monochromatism: -- Poor acuity and -- Nystagmus and -- Photophobia 51 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism Speaking of conditions that present very early in life with poor VA, nystagmusRod and monochromatismphotophobia…While there are many, the others that should come first to mind are what? Blue-cone monochromatism --Rod monochromatism --Inheritance: X-linked --Blue-coneBlue-cone monochromatism monochromatism --Only blue cones present --Albinism --VA usually about…20/80 --Aniridia --Diagnose via specialized…color ERG --Leber’s congenital amaurosis

Classic presentation of blue-cone monochromatism: -- Poor acuity and -- Nystagmus and -- Photophobia 52 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Rod monochromatism Blue-cone monochromatism --Inheritance: X-linked Blue-cone monochromatism --Only blue cones present --VA usually about…20/80 --Diagnose via specialized…color ERG

Classic presentation of blue-coneIf a pt has nystagmus monochromatism: plus good vision, -- PoorGoodacuity and ^ what condition does s/he most likely have? -- Nystagmus and Congenital motor nystagmus -- Photophobia 53 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Rod monochromatism Blue-cone monochromatism --Inheritance: X-linked Blue-cone monochromatism --Only blue cones present --VA usually about…20/80 --Diagnose via specialized…color ERG

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Rod monochromatism Briefly, what is congenitalBlue-cone motor monochromatism nystagmus? A nystagmus arising--Inheritance: in the first few X-linked months of life that Blue-cone monochromatismis not secondary --Onlyto either blue sensory cones or CNS present pathology --Mimics rod monochromatism Is the nystagmus--Diagnose vertical, horizontal via specialized… or both/either?color ERG It is virtually always horizontal

Rule of thumb: If a pt has nystagmus + good VA, Classic presentationit’s congenitalof blue-coneIf a pt has motor nystagmus monochromatism: nystagmus plus good vision, -- PoorGoodacuity and ^ what condition does s/he most likely have? -- Nystagmus and Congenital motor nystagmus -- Photophobia 55 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Rod monochromatism

Blue-coneaka… monochromatism

Finally: Note that blue-cone monochromatism is also known as S-cone monochromatism 61 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Rod monochromatism

Blue-coneS-cone monochromatism

Finally: Note that blue-cone monochromatism is also known as S-cone monochromatism 62 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Rod monochromatism

Blue-coneS-cone monochromatism

Finally: Note that blue-cone monochromatism is also known as S-cone monochromatism

Why is it aka S-cone monochromatism? What’s the ‘S’ stand for? 63 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Rod monochromatism

Blue-coneS-cone monochromatism

Finally: Note that blue-cone monochromatism is also known as S-cone monochromatism

Why is it aka S-cone monochromatism? What’s the ‘S’ stand for? As noted earlier in the slide-set, blue light is of short wavelength, so blue cones are aka short-wavelength cones--S-cones for short (see what I did there?) 64 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Rod monochromatism

Blue-coneS-cone monochromatism

Finally: Note that blue-cone monochromatism is also known as S-cone monochromatism Other than knowing that the condition goes by two names, is there Why is it aka S-cone monochromatism? What’s the ‘S’ stand for? another reason that an awareness of the name S-cone monochromatism As noted earlier in the slide-set, blue light is of short wavelength, is noteworthy? so blue cones are aka short-wavelength cones--S-cones for short Indeed there is, and it’s this: To make certain not to confuse S-cone (see what I did there?) monochromatism with the similarly-named but completely different condition enhanced S-cone syndrome 65 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism

Monochromatism

Rod monochromatism

Blue-coneS-cone monochromatism

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Speaking of conditions with two names…’Enhanced S-cone syndrome’ is also knownMonochromatism as what? Goldmann-Favre syndrome Rod monochromatism What sort of condition is it? The BCSC Retina book calls it a “diffuse photoreceptor dystrophy” a la RP Blue-coneS-cone monochromatism How does it present? With decreasedFinally: acuity Note as well that as blue-conenight blindness monochromatism is also known as S-cone monochromatism What is the appearance of enhanced S-cone syndrome on DFE? Other than knowing that the condition goes by two names, is there WhyUnlike is it theaka relatively S-cone monochromatism? normal appearance What’s of the the posterior ‘S’ stand pole for? in S-cone another reason that an awareness of the name S-cone monochromatism Asmonochromatism, noted earlier in the the slide-set, posterior blue pole light in enhanced is of short S-cone wavelength, syndrome is is noteworthy? sodecidedly blue cones abnormal--retinoschisis are aka short-wavelength as well cones-- as RP-likeS-cones changes for short ar e the rule Indeed there is, and it’s this: To make certain not to confuse S-cone (see what I did there?) monochromatism with the similarly-named but completely different condition enhanced S-cone syndrome 67 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Speaking of conditions with two names…’EnhancedIn what ways are photoreceptors S-cone syndrome’ affected? is also knownMonochromatism as what? --Rods: Non-functioning Goldmann-Favre syndrome --Red/green cones: Reduced in number. --Blue cones: Increased in number Rod monochromatism What sort of condition is it? The BCSC Retina book calls it a “diffuse photoreceptor dystrophy” a la RP Blue-coneS-cone monochromatism How does it present? With decreasedFinally: acuity Note as well that as blue-conenight blindness monochromatism is also known as S-cone monochromatism What is the appearance of enhanced S-cone syndrome on DFE? Other than knowing that the condition goes by two names, is there WhyUnlike is it theaka relatively S-cone monochromatism? normal appearance What’s of the the posterior ‘S’ stand pole for? in S-cone another reason that an awareness of the name S-cone monochromatism Asmonochromatism, noted earlier in the the slide-set, posterior blue pole light in enhanced is of short S-cone wavelength, syndrome is is noteworthy? sodecidedly blue cones abnormal--retinoschisis are aka short-wavelength as well cones-- as RP-likeS-cones changes for short ar e the rule Indeed there is, and it’s this: To make certain not to confuse S-cone (see what I did there?) monochromatism with the similarly-named but completely different condition enhanced S-cone syndrome 71 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Speaking of conditions with two names…’EnhancedIn what ways are photoreceptors S-cone syndrome’ affected? is also knownMonochromatism as what? --Rods: Non-functioning Goldmann-Favre syndrome --Red/green cones: Reduced in number --Blue cones: Increased in number Rod monochromatism What sort of condition is it? The BCSC Retina book calls it a “diffuse photoreceptor dystrophy” a la RP Blue-coneS-cone monochromatism How does it present? With decreasedFinally: acuity Note as well that as blue-conenight blindness monochromatism is also known as S-cone monochromatism What is the appearance of enhanced S-cone syndrome on DFE? Other than knowing that the condition goes by two names, is there WhyUnlike is it theaka relatively S-cone monochromatism? normal appearance What’s of the the posterior ‘S’ stand pole for? in S-cone another reason that an awareness of the name S-cone monochromatism Asmonochromatism, noted earlier in the the slide-set, posterior blue pole light in enhanced is of short S-cone wavelength, syndrome is is noteworthy? sodecidedly blue cones abnormal--retinoschisis are aka short-wavelength as well cones-- as RP-likeS-cones changes for short ar e the rule Indeed there is, and it’s this: To make certain not to confuse S-cone (see what I did there?) monochromatism with the similarly-named but completely different condition enhanced S-cone syndrome 75 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Speaking of conditions with two names…’EnhancedIn what ways are photoreceptors S-cone syndrome’ affected? is also knownMonochromatism as what? --Rods: Non-functioning Goldmann-Favre syndrome --Red/green cones: Reduced in number --Blue cones: Increased in number Rod monochromatism What sort of condition is it? The BCSC Retina book calls it a “diffuse photoreceptor dystrophy” a la RP Blue-coneS-cone monochromatism How does it present? With decreasedFinally: acuity Note as well that as blue-conenight blindness monochromatism is also known as S-cone monochromatism What is the appearance of enhanced S-cone syndrome on DFE? Other than knowing that the condition goes by two names, is there WhyUnlike is it theaka relatively S-cone monochromatism? normal appearance What’s of the the posterior ‘S’ stand pole for? in S-cone another reason that an awareness of the name S-cone monochromatism Asmonochromatism, noted earlier in the the slide-set, posterior blue pole light in enhanced is of short S-cone wavelength, syndrome is is noteworthy? sodecidedly blue cones abnormal--retinoschisis are aka short-wavelength as well cones-- as RP-likeS-cones changes for short ar e the rule Indeed there is, and it’s this: To make certain not to confuse S-cone (see what I did there?) monochromatism with the similarly-named but completely different condition enhanced S-cone syndrome 76 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Speaking of conditions with two names…’EnhancedIn what ways are photoreceptors S-cone syndrome’ affected? is also knownMonochromatism as what? --Rods: Non-functioning Goldmann-Favre syndrome --Red/green cones: Reduced in number --Blue cones: Increased in number Rod monochromatism What sort of condition is it? The BCSC Retina book calls it a “diffuse photoreceptor dystrophy” a la RP Blue-coneS-cone monochromatism How does it present? With decreasedFinally: acuity Note as well that as blue-conenight blindness monochromatism is also known as S-cone monochromatism What is the appearance of enhanced S-cone syndrome on DFE? Other than knowing that the condition goes by two names, is there WhyUnlike is it theaka relatively S-cone monochromatism? normal appearance What’s of the the posterior ‘S’ stand pole for? in S-cone another reason that an awareness of the name S-cone monochromatism Asmonochromatism, noted earlier in the the slide-set, posterior blue pole light in enhanced is of short S-cone wavelength, syndrome is is noteworthy? sodecidedly blue cones abnormal--retinoschisis are aka short-wavelength as well cones-- as RP-likeS-cones changes for short ar e the rule Indeed there is, and it’s this: To make certain not to confuse S-cone (see what I did there?) monochromatism with the similarly-named but completely different condition enhanced S-cone syndrome 77 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Speaking of conditions with two names…’EnhancedIn what ways are photoreceptors S-cone syndrome’ affected? is also knownMonochromatism as what? --Rods: Non-functioning Goldmann-Favre syndrome --Red/green cones: Reduced in number --Blue cones: Increased in number Rod monochromatism What sort of condition is it? The BCSC Retina book calls it a “diffuse photoreceptor dystrophy” a la RP Blue-coneS-cone monochromatism How does it present? What are the ERG findings? With decreasedFinally: acuity Note as well that as blue-conenight--Rod blindness response: monochromatis Undetectablem is also known as S-cone monochromatism--Red/green cone response: Attenuated What is the appearance of enhanced--Blue S-cone cones: syndrome Enhanced on DFE?(hence the name Other than knowing that the condition goes by two names, is there WhyUnlike is it theaka relatively S-cone monochromatism? normal appearanceof the What’s syndrome)of the the posterior ‘S’ stand pole for? in S-cone another reason that an awareness of the name S-cone monochromatism Asmonochromatism, noted earlier in the the slide-set, posterior blue pole light in enhanced is of short S-cone wavelength, syndrome is is noteworthy? sodecidedly blue cones abnormal--retinoschisis are aka short-wavelength as well cones-- as RP-likeS-cones changes for short ar e the rule Indeed there is, and it’s this: To make certain not to confuse S-cone (see what I did there?) monochromatism with the similarly-named but completely different condition enhanced S-cone syndrome 78 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Speaking of conditions with two names…’EnhancedIn what ways are photoreceptors S-cone syndrome’ affected? is also knownMonochromatism as what? --Rods: Non-functioning Goldmann-Favre syndrome --Red/green cones: Reduced in number --Blue cones: Increased in number Rod monochromatism What sort of condition is it? The BCSC Retina book calls it a “diffuse photoreceptor dystrophy” a la RP Blue-coneS-cone monochromatism How does it present? What are the ERG findings? With decreasedFinally: acuity Note as well that as blue-conenight--Rod blindness response: monochromatis Undetectablem is also known as S-cone monochromatism--Red/green cone response: Attenuated What is the appearance of enhanced--Blue S-cone cones: syndrome Enhanced on DFE?(hence the name Other than knowing that the condition goes by two names, is there WhyUnlike is it theaka relatively S-cone monochromatism? normal appearanceof the What’s syndrome)of the the posterior ‘S’ stand pole for? in S-cone another reason that an awareness of the name S-cone monochromatism Asmonochromatism, noted earlier in the the slide-set, posterior blue pole light in enhanced is of short S-cone wavelength, syndrome is is noteworthy? sodecidedly blue cones abnormal--retinoschisis are aka short-wavelength as well cones-- as RP-likeS-cones changes for short ar e the rule Indeed there is, and it’s this: To make certain not to confuse S-cone (see what I did there?) monochromatism with the similarly-named but completely different condition enhanced S-cone syndrome 79 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Speaking of conditions with two names…’EnhancedIn what ways are photoreceptors S-cone syndrome’ affected? is also knownMonochromatism as what? --Rods: Non-functioning Goldmann-Favre syndrome --Red/green cones: Reduced in number --Blue cones: Increased in number Rod monochromatism What sort of condition is it? The BCSC Retina book calls it a “diffuse photoreceptor dystrophy” a la RP Blue-coneS-cone monochromatism How does it present? What are the ERG findings? With decreasedFinally: acuity Note as well that as blue-conenight--Rod blindness response: monochromatis Undetectablem is also known as S-cone monochromatism--Red/green cone response: Attenuated What is the appearance of enhanced--Blue S-cone cones: syndrome Enhanced on DFE?(hence the name Other than knowing that the condition goes by two names, is there WhyUnlike is it theaka relatively S-cone monochromatism? normal appearanceof the What’s syndrome)of the the posterior ‘S’ stand pole for? in S-cone another reason that an awareness of the name S-cone monochromatism Asmonochromatism, noted earlier in the the slide-set, posterior blue pole light in enhanced is of short S-cone wavelength, syndrome is is noteworthy? sodecidedly blue cones abnormal--retinoschisis are aka short-wavelength as well cones-- as RP-likeS-cones changes for short ar e the rule Indeed there is, and it’s this: To make certain not to confuse S-cone (see what I did there?) monochromatism with the similarly-named but completely different condition enhanced S-cone syndrome 80 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Speaking of conditions with two names…’EnhancedIn what ways are photoreceptors S-cone syndrome’ affected? is also knownMonochromatism as what? --Rods: Non-functioning Goldmann-Favre syndrome --Red/green cones: Reduced in number --Blue cones: Increased in number Rod monochromatism What sort of condition is it? The BCSC Retina book calls it a “diffuse photoreceptor dystrophy” a la RP Blue-coneS-cone monochromatism How does it present? What are the ERG findings? With decreasedFinally: acuity Note as well that as blue-conenight--Rod blindness response: monochromatis Undetectablem is also known as S-cone monochromatism--Red/green cone response: Attenuated What is the appearance of enhanced--Blue S-cone cones: syndrome Enhanced on DFE?(hence the name Other than knowing that the condition goes by two names, is there WhyUnlike is it theaka relatively S-cone monochromatism? normal appearanceof the What’s syndrome)of the the posterior ‘S’ stand pole for? in S-cone another reason that an awareness of the name S-cone monochromatism Asmonochromatism, noted earlier in the the slide-set, posterior blue pole light in enhanced is of short S-cone wavelength, syndrome is is noteworthy? sodecidedly blue cones abnormal--retinoschisis are aka short-wavelength as well cones-- as RP-likeS-cones changes for short ar e the rule Indeed there is, and it’s this: To make certain not to confuse S-cone (see what I did there?) monochromatism with the similarly-named but completely different condition enhanced S-cone syndrome 81 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Speaking of conditions with two names…’EnhancedIn what ways are photoreceptors S-cone syndrome’ affected? is also knownMonochromatism as what? --Rods: Non-functioning Goldmann-Favre syndrome --Red/green cones: Reduced in number --Blue cones: Increased in number Rod monochromatism What sort of condition is it? The BCSC Retina book calls it a “diffuse photoreceptor dystrophy” a la RP Blue-coneS-cone monochromatism How does it present? What are the ERG findings? With decreasedFinally: acuity Note as well that as blue-conenight--Rod blindness response: monochromatis Undetectablem is also known as S-cone monochromatism--Red/green cone response: Attenuated What is the appearance of enhanced--Blue S-cone cones: syndrome Enhanced on DFE?(hence the name Other than knowing that the condition goes by two names, is there WhyUnlike is it theaka relatively S-cone monochromatism? normal appearanceof the What’s syndrome)of the the posterior ‘S’ stand pole for? in S-cone another reason that an awareness of the name S-cone monochromatism Asmonochromatism, noted earlier in the the slide-set, posterior blue pole light in enhanced is of short S-cone wavelength, syndrome is is noteworthy? sodecidedly blue cones abnormal--retinoschisis are aka short-wavelength as well cones-- as RP-likeS-cones changes for short ar e the rule Indeed there is, and it’s this: To make certain not to confuse S-cone (see what I did there?) monochromatism with the similarly-named but completely different condition enhanced S-cone syndrome 82 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Speaking of conditions with two names…’EnhancedIn what ways are photoreceptors S-cone syndrome’ affected? is also knownMonochromatism as what? --Rods: Non-functioning Goldmann-Favre syndrome --Red/green cones: Reduced in number --Blue cones: Increased in number Rod monochromatism What sort of condition is it? The BCSC Retina book calls it a “diffuse photoreceptor dystrophy” a la RP Blue-coneS-cone monochromatism How does it present? What are the ERG findings? With decreasedFinally: acuity Note as well that as blue-conenight--Rod blindness response: monochromatis Undetectablem is also known as S-cone monochromatism--Red/green cone response: Attenuated What is the appearance of enhanced--Blue S-cone cones: syndrome Enhanced on DFE?(hence the name Other than knowing that the condition goes by two names, is there WhyUnlike is it theaka relatively S-cone monochromatism? normal appearanceof the What’s syndrome)of the the posterior ‘S’ stand pole for? in S-cone another reason that an awareness of the name S-cone monochromatism Asmonochromatism, noted earlier in the the slide-set, posterior blue pole light in enhanced is of short S-cone wavelength, syndrome is is noteworthy? sodecidedly blue cones abnormal--retinoschisis are aka short-wavelength as well cones-- as RP-likeS-cones changes for short ar e the rule Indeed there is, and it’s this: To make certain not to confuse S-cone (see what I did there?) monochromatism with the similarly-named but completely different condition enhanced S-cone syndrome 83 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Speaking of conditions with two names…’EnhancedIn what ways are photoreceptors S-cone syndrome’ affected? is also knownMonochromatism as what? --Rods: Non-functioning Goldmann-Favre syndrome --Red/green cones: Reduced in number --Blue cones: Increased in number Rod monochromatism What sort of condition is it? The BCSC Retina book calls it a “diffuse photoreceptor dystrophy” a la RP Blue-coneS-cone monochromatism How does it present? What are the ERG findings? With decreasedFinally: acuity Note as well that as blue-conenight--Rod blindness response: monochromatis Undetectablem is also known as S-cone monochromatism--Red/green cone response: Attenuated What is the appearance of enhanced--Blue S-cone cones: syndrome Enhanced on DFE?(hence the name Other than knowing that the condition goes by two names, is there WhyUnlike is it theaka relatively S-cone monochromatism? normal appearanceof the What’s syndrome)of the the posterior ‘S’ stand pole for? in S-cone another reason that an awareness of the name S-cone monochromatism Asmonochromatism, noted earlier in the the slide-set, posterior blue pole light in enhanced is of short S-cone wavelength, syndrome is is noteworthy? sodecidedly blue cones abnormal--retinoschisis are aka short-wavelength as well cones-- as RP-likeS-cones changes for short ar e the rule Indeed there is, and it’s this: To make certain not to confuse S-cone (see what I did there?) monochromatism with the similarly-named but completely different condition enhanced S-cone syndrome 84 Congenital/Stationary Retinal Disease

Unaffected individual Enhanced S-cone syndrome pt

Blue stimulus

Red stimulus

Full-field ERG in response to color stimuli for an unaffected individual and a patient with enhanced S-cone syndrome. Note that in the patient, responses to blue stimuli are larger than that of the unaffected individual. Note further that the pt’s response to the red stimulus is essentially nonexistent. 85 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Enhanced S-cone syndrome 90 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism ? ?

Monochromatism

Two general categories, not specific conditions 91 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism

Two general categories, not specific conditions 92 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism ? 93 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB 94 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB

What does CNSB stand for in this context? 95 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB

What does CNSB stand for in this context? Congenital stationary night blindness 96 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology: Communication failure between… photoreceptors & bipolar cells --VA 20/20 - 20/200 --Refractive error: Usually myopia --Presents in childhood with: --Nystagmus --Decreased vision --Nyctalopia --Classified according to…ERG pattern --’Most common pattern: ‘Negative’ ERG --’Negative’ ERG = Large a-wave, no b-wave 97 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology: Communication failure between… photoreceptors & bipolar cells --VA 20/20 - 20/200 --Refractive error: Usually myopia --Presents in childhood with: --Nystagmus --Decreased vision --Nyctalopia --Classified according to…ERG pattern --’Most common pattern: ‘Negative’ ERG --’Negative’ ERG = Large a-wave, no b-wave 98 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology: Communication failure between… [two cell types]photoreceptors & bipolar cells --VA 20/20 - 20/200 --Refractive error: Usually myopia --Presents in childhood with: --Nystagmus --Decreased vision --Nyctalopia --Classified according to…ERG pattern --’Most common pattern: ‘Negative’ ERG --’Negative’ ERG = Large a-wave, no b-wave 99 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology: Communication failure between… photoreceptors & bipolar cells --VA 20/20 - 20/200 --Refractive error: Usually myopia --Presents in childhood with: --Nystagmus --Decreased vision --Nyctalopia --Classified according to…ERG pattern --’Most common pattern: ‘Negative’ ERG --’Negative’ ERG = Large a-wave, no b-wave 100 To CNS Ganglion-cell axons

 Retinal Layers

 Internal limiting membrane Ganglion cells  Nerve fiber layer  Ganglion cell layer  Inner plexiform layer  Inner nuclear layer  Outer plexiform layer (Henle’s layer) Bipolar cells  Outer nuclear layer  External limiting membrane  Rod & cone inner and outer segments

 RPE Photoreceptors  Bruch’s membrane

The photoreceptors, bipolar and ganglion cells comprise the vertical retinal pathway—vertical in the sense that it is the direct path from photic stimulation to the CNS processing centers. 101 To CNS Ganglion-cell axons

 Retinal Layers

 Internal limiting membrane Ganglion cells  Nerve fiber layer  Ganglion cell layer  Inner plexiform layer  Inner nuclear layer  Outer plexiform layer (Henle’s layer) Bipolar cells  Outer nuclear layer  ExternalIt limitingis at the PR-bipolar membrane cell interface that the pathology of CSNB resides  Rod & cone inner and outer segments

 RPE Photoreceptors  Bruch’s membrane

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology: Communication failure between… photoreceptors & bipolar cells --VA range: 20/20 - 20/200 --Refractive error: Usually myopia --Presents in childhood with: --Nystagmus --Decreased vision --Nyctalopia --Classified according to…ERG pattern --’Most common pattern: ‘Negative’ ERG --’Negative’ ERG = Large a-wave, no b-wave 103 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology: Communication failure between… photoreceptors & bipolar cells --VA range: 20/20 - 20/200 --Refractive error: Usually myopia --Presents in childhood with: --Nystagmus --Decreased vision --Nyctalopia --Classified according to…ERG pattern --’Most common pattern: ‘Negative’ ERG --’Negative’ ERG = Large a-wave, no b-wave 104 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology: Communication failure between… photoreceptors & bipolar cells --VA range: 20/20 - 20/200 --Refractive error: Usually… myopia --Presents in childhood with: --Nystagmus --Decreased vision --Nyctalopia --Classified according to…ERG pattern --’Most common pattern: ‘Negative’ ERG --’Negative’ ERG = Large a-wave, no b-wave 105 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology: Communication failure between… photoreceptors & bipolar cells --VA range: 20/20 - 20/200 --Refractive error: Usually…myopia --Presents in childhood with: --Nystagmus --Decreased vision --Nyctalopia --Classified according to…ERG pattern --’Most common pattern: ‘Negative’ ERG --’Negative’ ERG = Large a-wave, no b-wave 106 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology: Communication failure between… photoreceptors & bipolar cells --VA range: 20/20 - 20/200 When VA is poor in CSNB, it’s usually due --Refractive error: Usually…myopia to the (high) myopia, not the photoreceptors --Presents in childhood with: --Nystagmus --Decreased vision --Nyctalopia --Classified according to…ERG pattern --’Most common pattern: ‘Negative’ ERG --’Negative’ ERG = Large a-wave, no b-wave 107 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology: Communication failure between… photoreceptors & bipolar cells --VA range: 20/20 - 20/200 --Refractive error: Usually…myopia --Presents in childhood with: --Nystagmus --Decreased vision --Nyctalopia --Classified according to…ERG pattern --’Most common pattern: ‘Negative’ ERG --’Negative’ ERG = Large a-wave, no b-wave 108 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology: Communication failure between… photoreceptors & bipolar cells --VA range: 20/20 - 20/200 --Refractive error: Usually…myopia --Presents in childhood with: --Nystagmus --Decreased vision --Nyctalopia --Classified according to…ERG pattern --’Most common pattern: ‘Negative’ ERG --’Negative’ ERG = Large a-wave, no b-wave 109 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology: Communication failure between… photoreceptors & bipolar cells --VA range: 20/20 - 20/200 --Refractive error: Usually…myopia --Presents in childhood with: --Nystagmus What is nyctalopia? --Decreased visionNight blindness --Nyctalopia --Classified accordingMany to…ERGCSNB children pattern do not complain of nyctalopia. Why not? --’Most commonAs pattern: they have ‘Negative’ had extremely ERG poor night vision their entire lives, --’Negative’ ERGit seems = Large normal a-wave, to them—they no b-wave don’t know any different 110 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology: Communication failure between… photoreceptors & bipolar cells --VA range: 20/20 - 20/200 --Refractive error: Usually…myopia --Presents in childhood with: --Nystagmus What is nyctalopia? --Decreased visionNight blindness --Nyctalopia --Classified accordingMany to…ERGCSNB children pattern do not complain of nyctalopia. Why not? --’Most commonAs pattern: they have ‘Negative’ had extremely ERG poor night vision their entire lives, --’Negative’ ERGit seems = Large normal a-wave, to them—they no b-wave don’t know any different 111 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology: Communication failure between… photoreceptors & bipolar cells --VA range: 20/20 - 20/200 --Refractive error: Usually…myopia --Presents in childhood with: --Nystagmus What is nyctalopia? --Decreased visionNight blindness --Nyctalopia --Classified accordingMany to…ERGCSNB children pattern do not complain of nyctalopia. Why not? --’Most commonAs pattern: they have ‘Negative’ had extremely ERG poor night vision their entire lives, --’Negative’ ERGit seems = Large normal a-wave, to them—they no b-wave don’t know any different 112 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology: Communication failure between… photoreceptors & bipolar cells --VA range: 20/20 - 20/200 --Refractive error: Usually…myopia --Presents in childhood with: --Nystagmus What is nyctalopia? --Decreased visionNight blindness --Nyctalopia --Classified accordingMany to…ERGCSNB children pattern do not complain of nyctalopia. Why not? --’Most commonAs pattern: they have ‘Negative’ had extremely ERG poor night vision their entire lives, --’Negative’ ERGit seems = Large normal a-wave, to them—they no b-wave don’t know any different 113 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology: Communication failure between… photoreceptors & bipolar cells --VA range: 20/20 - 20/200 --Refractive error: Usually…myopia --Presents in childhood with: --Nystagmus --Decreased vision --Nyctalopia --Classified according to…[Psychophysical test] --’Most common pattern: ‘Negative’ ERG --’Negative’ ERG = Large a-wave, no b-wave 114 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology: Communication failure between… photoreceptors & bipolar cells --VA range: 20/20 - 20/200 --Refractive error: Usually…myopia --Presents in childhood with: --Nystagmus --Decreased vision --Nyctalopia --Classified according to…Scotopic ERG pattern --’Most common pattern: ‘Negative’ ERG --’Negative’ ERG = Large a-wave, no b-wave 115 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology: Communication failure between… photoreceptors & bipolar cells --VA range: 20/20 - 20/200 --Refractive error: Usually…myopia --Presents in childhood with: --Nystagmus --Decreased vision --Nyctalopia --Classified according to…Scotopic ERG pattern --’Most common pattern: ‘Negative’ ERG In other--’Negative’ words, the dark-adapted ERG = Large ERG. a-wave, (Remember, no b-wave it’s in the dark that CSNB pts have their difficulty.) Abnormalities of the photopic or light-adapted ERG also occur in CSNB, but are much more subtle. 116 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology: Communication failure between… photoreceptors & bipolar cells --VA range: 20/20 - 20/200 --Refractive error: Usually…myopia --Presents in childhood with: --Nystagmus --Decreased vision --Nyctalopia --Classified according to…Scotopic ERG pattern --Most common pattern: Negative ERG --Negative ERG = Large a-wave, no b-wave 117 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology: Communication failure between… photoreceptors & bipolar cells --VA range: 20/20 - 20/200 --Refractive error: Usually…myopia --Presents in childhood with: --Nystagmus --Decreased vision --Nyctalopia --Classified according to…Scotopic ERG pattern --Most common pattern: Negative ERG --Negative ERG = Large a-wave, no b-wave 118 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology: Communication failure between… photoreceptors & bipolar cells --VA range: 20/20 - 20/200 --Refractive error: Usually…myopia --Presents in childhood with: --Nystagmus --Decreased vision --Nyctalopia --Classified according to…Scotopic ERG pattern --Most common pattern: Negative ERG --Negative ERG = Large a-wave, no b-wave 119 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology: Communication failure between… photoreceptors & bipolar cells --VA range: 20/20 - 20/200 --Refractive error: Usually…myopia --Presents in childhood with: --Nystagmus --Decreased vision --Nyctalopia --Classified according to…Scotopic ERG pattern --Most common pattern: Negative ERG --Negative ERG = Large a-wave, no b-wave 120 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology:Another condition Communication presents with failurec/o night between… blindness, and ERGphotoreceptors reveals patterns & bipolar identical cells to those of CSNB. Thus, this --VAcondition range: is high20/20 on -the 20/200 DDx for CSNB. What is it? --RefractiveMAR error: Usually…myopia --Presents in childhood with: What--Nystagmus does MAR stand for in this context? Melanoma-associated--Decreased vision retinopathy --Nyctalopia --Classified according to…Scotopic ERG pattern What is --Mostmelanoma-associated common pattern: retinopathy Negative? ERG A paraneoplastic--Negative processERG in =which Large retinal a-wave, cells display no b-wave antigen s that are identical to, or cross-react with, melanoma cells within the body. Subsequent to sensitization to these antigens on the melanoma cells, the immune system attacks the same/similar antigens in the retina. 125 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology:Another condition Communication presents with failurec/o night between… blindness, and ERGphotoreceptors reveals patterns & bipolar identical cells to those of CSNB. Thus, this --VAcondition range: is high20/20 on -the 20/200 DDx for CSNB. What is it? --RefractiveMAR error: Usually…myopia --Presents in childhood with: What--Nystagmus does MAR stand for in this context? Melanoma-associated--Decreased vision retinopathy --Nyctalopia --Classified according to…Scotopic ERG pattern What is --Mostmelanoma-associated common pattern: retinopathy Negative? ERG A paraneoplastic--Negative processERG in =which Large retinal a-wave, cells display no b-wave antigen s that are identical to, or cross-react with, melanoma cells within the body. Subsequent to sensitization to these antigens on the melanoma cells, the immune system attacks the same/similar antigens in the retina. 126 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology:Another condition Communication presents with failurec/o night between… blindness, and ERGphotoreceptors reveals patterns & bipolar identical cells to those of CSNB. Thus, this --VAcondition range: is high20/20 on -the 20/200 DDx for CSNB.In what What very is it?important way does the night blindness of --RefractiveMAR error: Usually…myopiaMAR differ from that of CSNB? --Presents in childhood with: The night blindness in MAR is acquired, not congenital What--Nystagmus does MAR stand for in this context? Melanoma-associated--Decreased vision retinopathy --Nyctalopia --Classified according to…Scotopic ERG pattern What is --Mostmelanoma-associated common pattern: retinopathy Negative? ERG A paraneoplastic--Negative processERG in =which Large retinal a-wave, cells display no b-wave antigen s that are identical to, or cross-react with, melanoma cells within the body. Subsequent to sensitization to these antigens on the melanoma cells, the immune system attacks the same/similar antigens in the retina. 127 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology:Another condition Communication presents with failurec/o night between… blindness, and ERGphotoreceptors reveals patterns & bipolar identical cells to those of CSNB. Thus, this --VAcondition range: is high20/20 on -the 20/200 DDx for CSNB.In what What very is it?important way does the night blindness of --RefractiveMAR error: Usually…myopiaMAR differ from that of CSNB? --Presents in childhood with: The night blindness in MAR is acquired, not congenital What--Nystagmus does MAR stand for in this context? Melanoma-associated--Decreased vision retinopathy --Nyctalopia --Classified according to…Scotopic ERG pattern What is --Mostmelanoma-associated common pattern: retinopathy Negative? ERG A paraneoplastic--Negative processERG in =which Large retinal a-wave, cells display no b-wave antigen s that are identical to, or cross-react with, melanoma cells within the body. Subsequent to sensitization to these antigens on the melanoma cells, the immune system attacks the same/similar antigens in the retina. 128 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology:Another condition Communication presents with failurec/o night between… blindness, and ERGphotoreceptors reveals patterns & bipolar identical cells to those of CSNB. Thus, this --VAcondition range: is high20/20 on -the 20/200 DDx for CSNB.In what What very is it?important way does the night blindness of --RefractiveMAR error: Usually…myopiaMAR differ from that of CSNB? --Presents in childhood with: The night blindness in MAR is acquired, not congenital What--Nystagmus does MAR stand for in this context? Melanoma-associated--Decreased vision retinopathy --Nyctalopia --Classified according to…ScotopicIn addition ERG patternto night blindness, there is another complaint What is --Mostmelanoma-associated common pattern: retinopathy Negative?that ERGis classic for MAR. What is it? A paraneoplastic--Negative processERG in =which Large retinal a-wave, cellsPhotopsias, display no b-wave antigen often describeds that are asidentical ‘shimmering’ to, or cross-react with, melanoma cells within the body. Subsequent to sensitization to these antigens on the melanoma cells, the immune system attacks the same/similar antigens in the retina. 129 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology:Another condition Communication presents with failurec/o night between… blindness, and ERGphotoreceptors reveals patterns & bipolar identical cells to those of CSNB. Thus, this --VAcondition range: is high20/20 on -the 20/200 DDx for CSNB.In what What very is it?important way does the night blindness of --RefractiveMAR error: Usually…myopiaMAR differ from that of CSNB? --Presents in childhood with: The night blindness in MAR is acquired, not congenital What--Nystagmus does MAR stand for in this context? Melanoma-associated--Decreased vision retinopathy --Nyctalopia --Classified according to…ScotopicIn addition ERG patternto night blindness, there is another complaint What is --Mostmelanoma-associated common pattern: retinopathy Negative?that ERGis classic for MAR. What is it? A paraneoplastic--Negative processERG in =which Large retinal a-wave, cellsPhotopsias, display no b-wave antigen often describeds that are asidentical ‘shimmering’ to, or cross-react with, melanoma cells within the body. Subsequent to sensitization to these antigens on the melanoma cells, the immune system attacks the same/similar antigens in the retina. 130 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology:Another condition Communication presents with failurec/o night between… blindness, and ERGphotoreceptors reveals patterns & bipolar identical cells to those of CSNB. Thus, this --VAcondition range: is high20/20 on -the 20/200 DDx for CSNB.In what What very is it?important way does the night blindness of --RefractiveMAR error: Usually…myopiaMAR differ from that of CSNB? --Presents in childhood with: The night blindness in MAR is acquired, not congenital What--Nystagmus does MAR stand for in this context? Melanoma-associated--Decreased vision retinopathy --Nyctalopia --Classified according to…ScotopicIn addition ERG patternto night blindness, there is another complaint What is --Mostmelanoma-associated common pattern: retinopathy Negative?that ERGis classic for MAR. What is it? A paraneoplastic--Negative processERG in =which Large retinal a-wave, cellsPhotopsias, display no b-wave antigen often describeds that are asidentical ‘shimmering’ to, or cross-react with, melanoma cells within the body. Subsequent to sensitization to these antigens on the melanoma cells, the immune system attacks the same/similar antigens in the retina. 131 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology:What other psychophysicalCommunication test failure is always between… abnormal in CSNB? photoreceptorsDark adaptometry & bipolar cells --VA range: 20/20 - 20/200 --RefractiveWhat does error:dark adaptometry Usually…myopia assess? --PresentsThe increase in childhood in sensitivity with: that occurs when the background --Nystagmusillumination is low. That is to say, the longer an eye is in the dark, --Decreasedthe dimmer the vision light it can perceive (up to a point). --Nyctalopia --ClassifiedIn what way according is dark adap to…Scotopictometry abnormal ERG in pattern CSNB? --MostDue to commonthe lack of pattern: functioning Negative rods, theERG cone-rod break never kicks--Negative in—adaptationERG = remainsLarge a at-wave, the cone no maximum, b-wave with the result being poor vision under very dim conditions 132 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology:What other psychophysicalCommunication test failure is always between… abnormal in CSNB? photoreceptorsDark adaptometry & bipolar cells --VA range: 20/20 - 20/200 --RefractiveWhat does error:dark adaptometry Usually…myopia assess? --PresentsThe increase in childhood in sensitivity with: that occurs when the background --Nystagmusillumination is low. That is to say, the longer an eye is in the dark, --Decreasedthe dimmer the vision light it can perceive (up to a point). --Nyctalopia --ClassifiedIn what way according is dark adap to…Scotopictometry abnormal ERG in pattern CSNB? --MostDue to commonthe lack of pattern: functioning Negative rods, theERG cone-rod break never kicks--Negative in—adaptationERG = remainsLarge a at-wave, the cone no maximum, b-wave with the result being poor vision under very dim conditions 133 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology:What other psychophysicalCommunication test failure is always between… abnormal in CSNB? photoreceptorsDark adaptometry & bipolar cells --VA range: 20/20 - 20/200 --RefractiveWhat does error:dark adaptometry Usually…myopia assess? --PresentsThe increase in childhood in sensitivity with: that occurs when the background --Nystagmusillumination is low. That is to say, the longer an eye is in the dark, --Decreasedthe dimmer the vision light it can perceive (up to a point). --Nyctalopia --ClassifiedIn what way according is dark adap to…Scotopictometry abnormal ERG in pattern CSNB? --MostDue to commonthe lack of pattern: functioning Negative rods, theERG cone-rod break never kicks--Negative in—adaptationERG = remainsLarge a at-wave, the cone no maximum, b-wave with the result being poor vision under very dim conditions 134 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology:What other psychophysicalCommunication test failure is always between… abnormal in CSNB? photoreceptorsDark adaptometry & bipolar cells --VA range: 20/20 - 20/200 --RefractiveWhat does error:dark adaptometry Usually…myopia assess? --PresentsThe increase in childhood in sensitivity with: that occurs when the background --Nystagmusillumination is low. That is to say, the longer an eye is in the dark, --Decreasedthe dimmer the vision light it can perceive (up to a point). --Nyctalopia --ClassifiedIn what way according is dark adap to…Scotopictometry abnormal ERG in pattern CSNB? --MostDue to commonthe lack of pattern: functioning Negative rods, theERG cone-rod break never kicks--Negative in—adaptationERG = remainsLarge a at-wave, the cone no maximum, b-wave with the result being poor vision under very dim conditions 135 Congenital/Stationary Retinal Disease

Less This is what a dark adaptation curve looks like. As you sensitive can see, sensitivity increases to a maximum after about 30 minutes. Dark adaptation level

More sensitive

10 20 30 Time in dark (minutes) 136 Congenital/Stationary Retinal Disease

Less This is what a dark adaptation curve looks like. As you sensitive can see, sensitivity increases to a maximum after about 30 minutes. But what’s up this weird hiccup in the curve? Dark adaptation level

More sensitive

10 20 30 Time in dark (minutes) 137 Congenital/Stationary Retinal Disease

Less sensitive Here’s what’s up. Early on, the response is dominated by the cones. Dark adaptation level

More sensitive

10 20 30 Time in dark (minutes) 138 Congenital/Stationary Retinal Disease

Less sensitive Here’s what’s up. Early on, the response is dominated by the cones. However, note that the cones’ ability to dark-adapt is limited, and plateaus after ~10 minutes. Dark adaptation level

More sensitive

10 20 30 Time in dark (minutes) 139 Congenital/Stationary Retinal Disease

Less sensitive Meanwhile, the rods have been quietly dark-adapting along with the cones. Dark adaptation level

More sensitive

10 20 30 Time in dark (minutes) 140 Congenital/Stationary Retinal Disease

Less sensitive Meanwhile, the rods have been quietly dark-adapting along with the cones. Note that their dark-adaptation capacity is much greater than that of the cones. Dark adaptation level

More sensitive

10 20 30 Time in dark (minutes) 141 Congenital/Stationary Retinal Disease

Less If you overlay the rod curve atop the cone curve, sensitive you end up with the classic dark-adaptation curve. Dark adaptation level

More sensitive

10 20 30 Time in dark (minutes) 142 Congenital/Stationary Retinal Disease

Less If you overlay the rod curve atop the cone curve, sensitive you end up with the classic dark-adaptation curve. It turns out the ‘hiccup’ is the point where rod sensitivity overtakes that of the cones (and hence is called the cone-rod break). Dark adaptation level

More sensitive

10 20 30 Time in dark (minutes) 143 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology:What other psychophysicalCommunication test failure is always between… abnormal in CSNB? photoreceptorsDark adaptometry & bipolar cells --VA range: 20/20 - 20/200 --RefractiveWhat does error:dark adaptometry Usually…myopia assess? --PresentsThe increase in childhood in sensitivity with: that occurs when the background --Nystagmusillumination is low. That is to say, the longer an eye is in the dark, --Decreasedthe dimmer the vision light it can perceive (up to a point). --Nyctalopia --ClassifiedIn what way according is dark adap to…Scotopictometry abnormal ERG in pattern CSNB? Next question --MostDue to commonthe lack of pattern: functioning Negative rods, theERG cone-rod break never kicks--Negative in—adaptationERG = remainsLarge a at-wave, the cone no maximum, b-wave with the result being poor vision under very dim conditions 144 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism Congenital Stationary Night Blindness (CSNB) CSNB --Several inheritance patterns; most common = X-linked --Pathology:What other psychophysicalCommunication test failure is always between… abnormal in CSNB? photoreceptorsDark adaptometry & bipolar cells --VA range: 20/20 - 20/200 --RefractiveWhat does error:dark adaptometry Usually…myopia assess? --PresentsThe increase in childhood in sensitivity with: that occurs when the background --Nystagmusillumination is low. That is to say, the longer an eye is in the dark, --Decreasedthe dimmer the vision light it can perceive (up to a point). --Nyctalopia --ClassifiedIn what way according is dark adap to…Scotopictometry abnormal ERG in pattern CSNB? --MostDue to commonthe lack of pattern: functioning Negative rods, theERG cone-rod break never kicks--Negative in—adaptationERG = remainsLarge a at-wave, the cone no maximum, b-wave with the result being poor vision under very dim conditions 145 Congenital/Stationary Retinal Disease

CSNB

Normal

Dark-adaptometry curve in CSNB (filled circles). Note the lack of rod adaptation (ie, it looks just like the cones only graph a few slides back). 146 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB ?

? 147 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease 148 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

FundusAlbipunctatus --Pathology: Delayed regeneration of the photopigment…rhodopsin --Dark adaptation is abnormal: --Initially, patients are…night-blind, with abnormal…rod ERG --With enough time, will dark-adapt, and ERG normalizes --DFE: Striking array of…yellow - white dots --Dots found in entire posterior pole except…fovea 149 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

FundusAlbipunctatus --Pathology: Delayed regeneration of the photopigment…rhodopsin --Dark adaptation is abnormal: --Initially, patients are…[condition]night-blind, with abnormal…rod[test] ERG --With enough time, will dark-adapt, and ERG normalizes --DFE: Striking array of…yellow - white dots --Dots found in entire posterior pole except…fovea 151 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

FundusAlbipunctatus --Pathology: Delayed regeneration of the photopigment…rhodopsin --Dark adaptation is abnormal: --Initially, patients are…night-blind, with abnormal…rod ERG --With enough time, will Howdark-adapt, much time and are ERG we talking normalizes about? Several hours at least --DFE: Striking array of…yellow - white dots --Dots found in entire posterior pole except…fovea 154 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

FundusAlbipunctatus --Pathology: Delayed regeneration of the photopigment…rhodopsin --Dark adaptation is abnormal: --Initially, patients are…night-blind, with abnormal…rod ERG --With enough time, will Howdark-adapt, much time and are ERG we talking normalizes about? Several hours at least --DFE: Striking array of…yellow - white dots --Dots found in entire posterior pole except…fovea 155 Congenital/Stationary Retinal Disease

Less sensitive

Fundus albipunctatus level Dark adaptation More Normal sensitive

Delayed dark adaptation in fundus albipunctatus 156 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

Fundus albipunctatus 159 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

What is the main disease that must be differentiated from fundusalbipunctatus? RetinitisCone punctata (Color) albescens Disease Rod (Night Vision) Disease What is retinitis punctata albescens? An RP variant characterized by white - yellow dots similar to those of albipunctatus Trichromatism Dichromatism Fundus Fundus How do fundus albipunctatus and retinitis punctata albescens differ?appearance appearance --On DFE: Like other forms of RP, retinitis punctata albescens demonstratesnormal abnormal arteriolarMonochromatism narrowing, whereas albipunctatus does not Fundus --On ERG: Fundus albipunctatus is a disease of abnormal rhodopsinCSNB regeneration, albipunctatus which manifests as slow but ultimately successful dark adaptation. In contrast, retinitis punctata albescens is a photoreceptor disease; therefore, dark Oguchi adaptation does not occur and the ERG never normalizes, no matter how disease much time is allowed to elapse. FundusAlbipunctatus --Pathology: Delayed regeneration of the photopigment…rhodopsin --Dark adaptation is abnormal: --Initially, patients are…night-blind, with abnormal…rod ERG --With enough time, will dark-adapt, and ERG normalizes --DFE: Striking array of…yellow - white dots --Dots found in entire posterior pole except…fovea 162 Congenital/Stationary Retinal Disease

What is the main disease that must be differentiated from fundusalbipunctatus? RetiConenitis punc (Color)tata albe Diseasescens Rod (Night Vision) Disease What is retinitis punctata albescens? An RP variant characterized by white - yellow dots similar to those of albipunctatus Trichromatism Dichromatism Fundus Fundus How do fundus albipunctatus and retinitis punctata albescens differ?appearance appearance --On DFE: Like other forms of RP, retinitis punctata albescens demonstratesnormal abnormal arteriolarMonochromatism narrowing, whereas albipunctatus does not Fundus --On ERG: Fundus albipunctatus is a disease of abnormal rhodopsinCSNB regeneration, albipunctatus which manifests as slow but ultimately successful dark adaptation. In contrast, retinitis punctata albescens is a photoreceptor disease; therefore, dark Oguchi adaptation does not occur and the ERG never normalizes, no matter how disease much time is allowed to elapse. FundusAlbipunctatus --Pathology: Delayed regeneration of the photopigment…rhodopsin --Dark adaptation is abnormal: --Initially, patients are…night-blind, with abnormal…rod ERG --With enough time, will dark-adapt, and ERG normalizes --DFE: Striking array of…yellow - white dots --Dots found in entire posterior pole except…fovea 163 Congenital/Stationary Retinal Disease

What is the main disease that must be differentiated from fundusalbipunctatus? RetiConenitis punc (Color)tata albe Diseasescens Rod (Night Vision) Disease What is retinitis punctata albescens? An RPabb. variant characterized by white - yellow dots similar to those of albipunctatus Trichromatism Dichromatism Fundus Fundus How do fundus albipunctatus and retinitis punctata albescens differ?appearance appearance --On DFE: Like other forms of RP, retinitis punctata albescens demonstratesnormal abnormal arteriolarMonochromatism narrowing, whereas albipunctatus does not Fundus --On ERG: Fundus albipunctatus is a disease of abnormal rhodopsinCSNB regeneration, albipunctatus which manifests as slow but ultimately successful dark adaptation. In contrast, retinitis punctata albescens is a photoreceptor disease; therefore, dark Oguchi adaptation does not occur and the ERG never normalizes, no matter how disease much time is allowed to elapse. FundusAlbipunctatus --Pathology: Delayed regeneration of the photopigment…rhodopsin --Dark adaptation is abnormal: --Initially, patients are…night-blind, with abnormal…rod ERG --With enough time, will dark-adapt, and ERG normalizes --DFE: Striking array of…yellow - white dots --Dots found in entire posterior pole except…fovea Congenital/Stationary Retinal Disease

Retinitis punctata albescens 166 Congenital/Stationary Retinal Disease

What is the main disease that must be differentiated from fundusalbipunctatus? RetiConenitis punc (Color)tata albe Diseasescens Rod (Night Vision) Disease What is retinitis punctata albescens? An RP variant characterized by white - yellow dots similar to those of albipunctatus Trichromatism Dichromatism Fundus Fundus How do fundusalbipunctatus and retinitis punctata albescens differ?appearance appearance --On DFE: Like other forms of RP, retinitis punctata albescens demonstratesnormal abnormal arteriolarMonochromatism narrowing, whereas albipunctatus does not Fundus --On ERG: Fundus albipunctatus is a disease of abnormal rhodopsinCSNB regeneration, albipunctatus which manifests as slow but ultimately successful dark adaptation. In contrast, retinitis punctata albescens is a photoreceptor disease; therefore, dark Oguchi adaptation does not occur and the ERG never normalizes, no matter how disease much time is allowed to elapse. FundusAlbipunctatus --Pathology: Delayed regeneration of the photopigment…rhodopsin --Dark adaptation is abnormal: --Initially, patients are…night-blind, with abnormal…rod ERG --With enough time, will dark-adapt, and ERG normalizes --DFE: Striking array of…yellow - white dots --Dots found in entire posterior pole except…fovea 168 Congenital/Stationary Retinal Disease

What is the main disease that must be differentiated from fundusalbipunctatus? RetiConenitis punc (Color)tata albe Diseasescens Rod (Night Vision) Disease What is retinitis punctata albescens? An RP variant characterized by white - yellow dots similar to those of albipunctatus Trichromatism Dichromatism Fundus Fundus How do fundusalbipunctatus and retinitis punctata albescens differ?appearance appearance --On DFE: Like other forms of RP, retinitis punctata albescens demonstratesnormal abnormal arteriolarMonochromatism narrowing, whereas albipunctatus does not Fundus --On ERG: Fundus albipunctatus is a disease of abnormal rhodopsinCSNB regeneration, albipunctatus which manifests as slow but ultimately successful dark adaptation. In contrast, retinitis punctata albescens is a photoreceptor disease; therefore, dark Oguchi adaptation does not occur and the ERG never normalizes, no matter how disease much time is allowed to elapse. FundusAlbipunctatus --Pathology: Delayed regeneration of the photopigment…rhodopsin --Dark adaptation is abnormal: --Initially, patients are…night-blind, with abnormal…rod ERG --With enough time, will dark-adapt, and ERG normalizes --DFE: Striking array of…yellow - white dots --Dots found in entire posterior pole except…fovea 169 Congenital/Stationary Retinal Disease

What is the main disease that must be differentiated from fundusalbipunctatus? RetiConenitis punc (Color)tata albe Diseasescens Rod (Night Vision) Disease What is retinitis punctata albescens? An RP variant characterized by white - yellow dots similar to those of albipunctatus Trichromatism Dichromatism Fundus Fundus How do fundusalbipunctatus and retinitis punctata albescens differ?appearance appearance --On DFE: Like other forms of RP, retinitis punctata albescens demonstratesnormal abnormal arteriolarMonochromatism narrowing, whereas albipunctatus does not Fundus --On ERG: Fundus albipunctatus is a disease of abnormal rhodopsinCSNB regeneration, albipunctatus which manifests as slow but ultimately successful dark adaptation. In contrast, retinitis punctata albescens is a photoreceptor disease; therefore, dark Oguchi adaptation does not occur and the ERG never normalizes, no matter how disease much time is allowed to elapse. FundusAlbipunctatus --Pathology: Delayed regeneration of the photopigment…rhodopsin --Dark adaptation is abnormal: --Initially, patients are…night-blind, with abnormal…rod ERG --With enough time, will dark-adapt, and ERG normalizes --DFE: Striking array of…yellow - white dots --Dots found in entire posterior pole except…fovea 170 Congenital/Stationary Retinal Disease

What is the main disease that must be differentiated from fundusalbipunctatus? RetiConenitis punc (Color)tata albe Diseasescens Rod (Night Vision) Disease What is retinitis punctata albescens? An RP variant characterized by white - yellow dots similar to those of albipunctatus Trichromatism Dichromatism Fundus Fundus How do fundusalbipunctatus and retinitis punctata albescens differ?appearance appearance --On DFE: Like other forms of RP, retinitis punctata albescens demonstratesnormal abnormal arteriolarMonochromatism narrowing, whereas albipunctatus does not Fundus --On ERG: Fundus albipunctatus is a disease of abnormal rhodopsinCSNB regeneration, albipunctatus which manifests as slow but ultimately successful dark adaptation. In contrast, retinitis punctata albescens is a photoreceptor disease; therefore, dark Oguchi adaptation does not occur and the ERG never normalizes, no matter how disease much time is allowed to elapse. FundusAlbipunctatus --Pathology: Delayed regeneration of the photopigment…rhodopsin --Dark adaptation is abnormal: --Initially, patients are…night-blind, with abnormal…rod ERG --With enough time, will dark-adapt, and ERG normalizes --DFE: Striking array of…yellow - white dots --Dots found in entire posterior pole except…fovea 171 Congenital/Stationary Retinal Disease

What is the main disease that must be differentiated from fundusalbipunctatus? RetiConenitis punc (Color)tata albe Diseasescens Rod (Night Vision) Disease What is retinitis punctata albescens? An RP variant characterized by white - yellow dots similar to those of albipunctatus Trichromatism Dichromatism Fundus Fundus How do fundusalbipunctatus and retinitis punctata albescens differ?appearance appearance --On DFE: Like other forms of RP, retinitis punctata albescens demonstratesnormal abnormal arteriolarMonochromatism narrowing, whereas albipunctatus does not Fundus --On ERG: Fundusalbipunctatus is a disease of abnormal rhodopsinCSNB regeneration, albipunctatus which manifests as slow but ultimately successful dark adaptation. In contrast, retinitis punctata albescens is a photoreceptor disease; therefore, dark Oguchi adaptation does not occur and the ERG never normalizes, no matter how disease much time is allowed to elapse. FundusAlbipunctatus --Pathology: Delayed regeneration of the photopigment…rhodopsin --Dark adaptation is abnormal: --Initially, patients are…night-blind, with abnormal…rod ERG --With enough time, will dark-adapt, and ERG normalizes --DFE: Striking array of…yellow - white dots --Dots found in entire posterior pole except…fovea 172 Congenital/Stationary Retinal Disease

What is the main disease that must be differentiated from fundusalbipunctatus? RetiConenitis punc (Color)tata albe Diseasescens Rod (Night Vision) Disease What is retinitis punctata albescens? An RP variant characterized by white - yellow dots similar to those of albipunctatus Trichromatism Dichromatism Fundus Fundus How do fundusalbipunctatus and retinitis punctata albescens differ?appearance appearance --On DFE: Like other forms of RP, retinitis punctata albescens demonstratesnormal abnormal arteriolarMonochromatism narrowing, whereas albipunctatus does not Fundus --On ERG: Fundusalbipunctatus is a disease of abnormal rhodopsinCSNB regeneration, albipunctatus which manifests as slow but ultimately successful dark adaptation. In contrast, retinitis punctata albescens is a photoreceptor disease; therefore, dark Oguchi adaptation does not occur and the ERG never normalizes, no matter how disease much time is allowed to elapse. FundusAlbipunctatus --Pathology: Delayed regeneration of the photopigment…rhodopsin --Dark adaptation is abnormal: --Initially, patients are…night-blind, with abnormal…rod ERG --With enough time, will dark-adapt, and ERG normalizes --DFE: Striking array of…yellow - white dots --Dots found in entire posterior pole except…fovea 173 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

Oguchi Disease --Also have slow dark adaptation (not a pigment regeneration issue, though) --Once dark-adapted, dark sensitivity lost with a single bright flash --DFE: --Normal appearance when…dark-adapted --Posterior pole takes on a yellow iridescent sheen after light exposure (known as the Mizuo-Nakamura phenomenon) 174 Congenital/Stationary Retinal Disease

Less sensitive

Fundus albipunctatus level Oguchi dz Dark adaptation More Normal sensitive

Delayed dark adaptation in Oguchi dz 175 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

Oguchi Disease --Also have slow dark adaptation (not a pigment regeneration issue, though) --Once dark-adapted, dark sensitivity lost with a single…[event] --DFE: --Normal appearance when…dark-adapted --Posterior pole takes on a yellow iridescent sheen after light exposure (known as the Mizuo-Nakamura phenomenon) 176 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

Oguchi Disease --Also have slow dark adaptation (not a pigment regeneration issue, though) --Once dark-adapted, dark sensitivity lost with a single…bright flash --DFE: --Normal appearance when…dark-adapted --Posterior pole takes on a yellow iridescent sheen after light exposure (known as the Mizuo-Nakamura phenomenon) 177 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

Oguchi Disease --Also have slow dark adaptation (not a pigment regeneration issue, though) --Once dark-adapted, dark sensitivity lost with a single…bright flash --DFE: --Normal appearance when…[state of adaptation] dark-adapted --Posterior pole takes on a yellow iridescent sheen after light exposure (known as the Mizuo-Nakamura phenomenon) 178 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

Oguchi Disease --Also have slow dark adaptation (not a pigment regeneration issue, though) --Once dark-adapted, dark sensitivity lost with a single…bright flash --DFE: --Normal appearance when…dark-adapted --After light exposure, posterior pole takes on a…[appearance]scet sheen (known as the Mizuo-Nakamura phenomenon) 180 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

Oguchi Disease --Also have slow dark adaptation (not a pigment regeneration issue, though) --Once dark-adapted, dark sensitivity lost with a single…bright flash --DFE: --Normal appearance when…dark-adapted --After light exposure, posterior pole takes on a…yellow iridescent sheen (known as the Mizuo-Nakamura phenomenon) 181 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

Oguchi Disease --Also have slow dark adaptation (not a pigment regeneration issue, though) --Once dark-adapted, dark sensitivity lost with a single…bright flash --DFE: --Normal appearance when…dark-adapted --After light exposure, posterior pole takes on a…yellow iridescent sheen --This color change is known as the…[eponym-eponym] 182 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

Oguchi Disease --Also have slow dark adaptation (not a pigment regeneration issue, though) --Once dark-adapted, dark sensitivity lost with a single…bright flash --DFE: --Normal appearance when…dark-adapted --After light exposure, posterior pole takes on a…yellow iridescent sheen --This color change is known as the…Mizuo-Nakamura phenomenon 183 Congenital/Stationary Retinal Disease

Appearance after exposure to light Appearance in dark-adapted state

Mizuo-Nakamura phenomenon in Oguchi dz 184 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

Oguchi Disease --Also have slow dark adaptation (not a pigment regeneration issue, though) --Once dark-adapted,Is Oguchi dark dz common,sensitivity or lostrare? with a single…bright flash --DFE: It is very rare --Normal appearance when…dark-adapted --After light exposure,With what posterior ethnicity is pole it closely takes associated? on a…yellow iridescent sheen Japanese --This color change is known as the…Mizuo-Nakamura phenomenon 185 Congenital/Stationary Retinal Disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease

Cone (Color) Disease Rod (Night Vision) Disease

Trichromatism Dichromatism Fundus Fundus appearance appearance normal abnormal Monochromatism CSNB Fundus albipunctatus Oguchi disease