Acquired Color Deficiency in Various Diseases
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1 84th Annual AsMA Scientific Meeting Acquired Color Deficiency in Various Diseases Jeff Rabin,1,2 Michael Castro,1 Daniel Ewing,1 Hayley George,1 Paul Lau,1 Shannon Leon,1 Andrew Yoder,1 John Gooch2 and Steve Wright2 Univerity of the Incarnate Word Rosenberg School of Optometry 2 US Air Force School of Aerospace Medicine 1
2 84th Annual AsMA Scientific Meeting Disclosure Information Speaker: Jeff Rabin I have no financial relationships to disclose. I will not discuss off-label use and/or investigational use in my presentation. Don t ask me to stand up I am standing up!
3 Normal Color Vision Normal color vision Based on red, green and blue sensitive retinal cones Adaptive optics image of human retina 3
4 Color Vision Deficiency (CVD) Hereditary 8% CVD Normal of males Deficiency 1 in 200 females Due to a shift in cone sensitivity, or Lack of red or green cones
5 Normal Color Vision Depends on three cones (red, green and blue) 441nm Sensitivity B 541nm 566nm G Wavelength R 5
6 Color Vision Depends on the Difference in Cone Stimulation Small difference Large difference B G R 6
7 Hereditary Color Deficiency Hereditary color deficiency 8% males 1 in 200 females 7
8 Protan Dichromat Lack of red cones 441nm 541nm 1% of Males B G R 8
9 Deutan Dichromat Or green cones 441nm 566nm 1% of Males B G R 9
10 Protanomalous Trichromacy Or sensitivity shift (red toward green) 441nm 541nm 1% of Males B G R 10
11 Deuteranomalous Trichromacy Or green toward red 441nm 566nm 5% of Males B G R 11
12 Color Vision Depends on the Difference in Cone Stimulation Small difference 5% of Males B G R Small difference Look the same! 12
13 Blue Cone Deficiency Hereditary red (2%) or green (6%) color deficiency is common (8% of males, 1 in 200 females) Hereditary blue (tritan) deficiency is rare ( %) 13
14 Acquired Color Vision Deficiency If blue cone deficiency is present, is it due to disease? Red, Green &/or Blue deficiency can occur as an early sign of disease 14
15 Acquired Color Vision Deficiency Acquired CVD can also manifest from physiological stressors Altitude and hypoxia Ischemic events Drugs Aging Trauma to eye and/or brain Potentially from psychological stress and/or fatigue. 15
16 Purpose Our purpose is to review differences between hereditary and acquired CVD, methods of diagnosis, as well as case analyses of acquired CVD. 16
17 Cone Contrast Test Principles Letters seen only by red, green or blue cones. Higher the score, the better the color vision. Red CVD fails red test, Green CVD fails green. 17
18 Characteristics of Acquired CVD 2ndary to disease, trauma or toxicity. Often unilateral, different between eyes. Unstable and variable in course. Recent history of color naming errors. Difficult to classify with standard tests. Red-green or blue-yellow. Often blue-yellow. 18
19 Köllner s Rule (1912) Diseases of the outer retina (e.g., cones, rods, RPE) result in blue-yellow defects Diseases of the inner retina (e.g., ganglion cells) result in red-green defects Many exceptions to Köllner s Rule Köllner H. Die Störungen des Farbensinners. ihre klinische Bedeutung und ihre Diagnose. Berlin: Karger;
20 What can go wrong? Retina Absorb light (catch photons) Outer Retina Middle Retina - - Respond to differences - Inner Retina - Respond to contrast 20
21 What can go wrong? Pathway Retinal ganglion cell fibers form optic nerves Temporal retinal fibers from left eye join with nasal fibers from right eye Cross point optic chiasm After chiasm optic tract Next stop LGN (lateral geniculate nucleus; regulates information flow) LGN sends optic radiations to visual cortex 21
22 What can go wrong? Brain Where is it? What is it? 22
23 Retina: Macular Degeneration Soft confluent drusen; 20/20 VAs 100 Cone 75 Contrast 50 Test normal mean 2 SDs RE LE Selective decrease in blue cone CS Red Green Blue Cone stimulation 23
24 Retina: Macular Degeneration RE & LE 20/25; Amsler & Ishihara Normal Cone Contrast 50 Test normal mean 2 SDs mean 2 SDs normal normal mean mean 2 SDs SDs 2 RE LE 25 0 Red Green Blue Cone stimulation 24
25 Diabetic Macular Edema Diabetic Macular Edema of RE Decreased color vision despite normal & equal VA RE 20/25, LE 20/ normal mean mean 2 SDs 2 SDs Cone 75 Contrast 50 Test normal mean RE LE 2 SDs 25 0 Red Green Blue Cone stimulation 25
26 Central Serous Retinopathy Central Serous Retinopathy Common in pilot population Local detachment of retina. Can resolve without treatment. Difficult to detect without special testing RPE disturbance Fluid leak Detachment 26
27 Central Serous Retinopathy Acquired Blue (Tritan) Color Deficiency Normal eye Red cone Green cone Blue RE & LE 20/20! Red cone Central serous Green cone Blue Bluecone normal range Acquired Color Deficiency CCT Score
28 Central Serous Retinopathy Red cone Normal eye Green cone Blue cone Blue (20/20) Central serous (20/30-2) Red cone Green cone Blue Blue cone normal range Cone contrast sensitivity 28
29 mferg Measures Cone & Bipolars New technique to record multiple focal ERGs from various sites. Display 6 to 240 hexagons, scaled in size for retinal eccentricity. Hexagons reverse (B to W; W to B) in pseudo-random fashion. System records response to each light onset; links that response to area stimulated field. Allows for focal ERG from each point in the visual field. Multifocal ERG mainly from ON and OFF bipolars with smaller contribution from inner & outer retina (IOVS May 2002). 29
30 Multifocal ERG in CSR RE LE-CSR 30
31 Hereditary Macular Drusen RE and LE 20/20 Ishihara and Amsler Normal normal mean 2 SDs normal mean mean 2 SDs RE LE 2 SDs CCT Score Red Green Blue Cone stimulation 31
32 Surface Wrinkling Retinopathy RE 20/20, LE 20/30 More advanced in LE Cone Contrast 50 Test normal mean mean 2 SDs 2 SDs normal mean RE LE 2 SDs 25 0 Red Green Blue Cone stimulation 32
33 Tilted Optic Discs Subtle optic nerve hypoplasia OU 100 normal mean mean 2 SDs 2 SDs normal mean 2 SDs 75 CCT Score 50 RE LE 25 0 Nonselective decrease in color vision Red Green Blue Cone stimulation 33
34 Left Optic Neuropathy RE 20/20, LE 20/ RE LE 75 CCT Score Red Green Blue Cone stimulation 34
35 Advanced Glaucoma in Right Eye RE & LE 20/20 Visual Field Loss in RE normal mean 2 SDs mean 2 SDs normal mean 2 SDs CCT Score Red Green Blue Cone stimulation 35
36 Non-arteritic Ischemic Optic Neuropathy Right eye Left eye Pale disc-optic atrophy LE RE Early 40s: painless loss of vision in left eye Developed left infero-nasal field defect High contrast visual acuity: RE 20/12, LE 20/13 (exceptional in both eyes) Small letter contrast sensitivity Exceptional in RE; 3x lower in the left eye 36
37 Non-arteritic Ischemic Optic Neuropathy Right eye Red Left eye Cone Right Red eye Cone Green Cone Left eye Blue Cone Green Cone 11 HVVZRNNF FU1 1 D H R F D V 2 F V N H P 22 DFRVENZHU P2 2 3 R P F D U 33 NRZPVFEDP U3 3 R N P N ZZ 4 Z E D H P 44 ZZEEDDNHF P4 4 1 V Z N F U E R Z U V N F 1 N R H E P Z U 2 Z V E F D U P 3 V D E H E N F 4 DD 5 5 H R P E D 55H HR RP PE ED D5 5H HR RP PE E tests Standard color 6 D R E Z U (PIP, D15, FM 100 Hue, 7 N Z V E H anomaloscopes) 8 U V R N F NORMAL in 9both E R eyes! P D N 66F DV RN EH ZP U6 6V FZ VN NF HU P 6 77R NP ZF VD EU H7 7Z RE PD FH DP U 7 88 V UZ VN RF N H F8 8U VV ZR NN FF H 8 99H EP RF PD DN N9 9H HP PF FD DN N 9 V VN HP UU RD E 1 10 D Test V H F E 10 Contrast 10V DH VU HR FE E1010 Cone RE: normal (low normal on green) LE: below normal on green & blue CCT 37
38 Diagnosis? 20-year-old healthy white male Decreased vision OD while deployed Medic prescribed drops; got better But still not normal VA 20/ 15 OD, OS Subtle APD OD Fundi WNL 38
39 Optic Neuritis: Early Sign of MS Small Letter Contrast Test 3 line decrease in RE Resolved Optic Neuritis of RE MRI and CSF Probable MS 100 mean mean 2 SD 2 SDs mean 2 SDs 75 RE LE CCT Score VEP latency-60 ms increase in RE 0 Red Green Cone test Blue 39
40 VEP in Optic Neuritis Pattern Reversal VEP Resolved Optic Neuritis of RE; RE & LE 20/ ms LE RE 170 ms 40
41 VEP in Optic Neuritis Pattern Reversal VEP Right Optic Neuritis; RE & LE 20/20 99 ms LE RE 136 ms 41
42 VEP in Optic Neuritis Pattern Reversal VEP Right Optic Neuritis; peripheral field loss RE & LE 20/ ms LE RE 135 ms 42
43 VEP in Optic Neuritis Pattern Reversal VEP Right Optic Neuritis; RE 20/30, LE 20/ ms LE RE 146 ms 43
44 Multiple Sclerosis without Optic Neuritis 42 yo female-2- year history of MS RE & LE 20/20 Amsler & Ishihara Normal Cone Contrast Test 50 normal mean 2 SDs mean 2 SDs mean 2 SDs 25 0 Red Green Blue Cone stimulation 44
45 Multiple Sclerosis without Optic Neuritis 33 yo female-10-year history of MS No history of acute or chronic visual loss Cone Contrast Test 50 normal mean 2 SDs mean 2 SDs mean 2 SDs 25 RE LE 0 Red Green Blue Cone stimulation 45
46 Color Vision in MS 100 Cone 75 Contrast Test 50 Normals MS/Optic Neuritis 25 0 Red Green Blue Cone stimulation 46
47 Color Vision in Eye Disease CCT in Eye Disease 100 CCT Score Acquired Color Deficiency Red Green Normals Retina Optic Nerve Visual Pathway Blue Cone Contrast Test 47 47
48 Hereditary & Acquired Color Deficiency Hereditary deuteranomaly confirmed by anomaloscope Optic nerve head drusen, greater in left eye with atrophy Consistent acquired protan defect in the left eye 100 CCT Score 75 Red Green 50 Blue 25 0 Right Eye Left Eye 48
49 Tritan Deficiency: Diagnosis of Exclusion Color VEPs Conducted with color patterns which stimulate only red, green or blue cones. Sensitive objective measure of color vision. 49
50 Tritan Deficiency: Diagnosis of Exclusion 21-year-old WF seeking pilot status. Hard to tell blues from blue-greens Missed tritan plates, failed blue cone CCT, Moreland Anomaloscope shifted to blue Right eye Left eye 4: (µv) R 10 0 Trigger In (Unknown Stimulus) 5: (µv) R Trigger In (Unknown Stimulus) R 1: (µv) R Trigger In 6: (µv) Blue cone 3: (µv) R Green cone 2: (µv) Red cone R Trigger In 0 Trigger In (Unknown Stimulus) milliseconds Trigger In (Unknown Stimulus) Trigger In (Unknown Stimulus) Trigger In (Unknown Stimulus) milliseconds
51 Tritan Deficiency: Diagnosis of Exclusion White-On-White Perimetry White + target on white background. Tests most sensitive pathway. Not selective to any one pathway. 51
52 Tritan Deficiency: Diagnosis of Exclusion White-on-White Perimetry 52
53 Tritan Deficiency: Diagnosis of Exclusion Blue-On-Yellow Perimetry Short-wavelength automated perimetry (SWAP). Bright yellow background decreases sensitivity of all receptors except blue cones. Blue target detected readily by blue cones. + 53
54 Tritan Deficiency: Diagnosis of Exclusion Blue-on-Yellow Perimetry 54
55 Tritan Deficiency: Diagnosis of Exclusion Hereditary tritan deficiency extremely rare ( %). Essential to rule-out tritan deficiency acquired with ocular (glaucoma), systemic (diabetes), or neurological (multiple sclerosis) disease. Present case no evidence of disease. Working assumption hereditary basis.
56 Is Hereditary Tritan Deficiency Progressive? 56
57 Is Hereditary Tritan Deficiency Progressive? 57
58 Conclusions Acquired CVD can present with symptoms or at subclinical levels in various diseases and conditions. It is incumbent upon us to fully utilize sensitive methods to detect CVD as an early sign of disease or and as an adjunctive method to monitor progression over time.
59 Luminance CS Black-white (B/W) luminance CS was measured with the Pelli-Robson chart Large letters which decrease in contrast in 0.15 log steps (0.05 log CS/letter) 59
60 B/W CS: Normal vs. Deficiency Mean ± 1 SE 2.00 Normals B/W CS decreased 1.6X in color deficiency 1.75 Color Deficiency Log CS 1.50 Normals 1.6X Color Deficiency Luminance (cd/m2)
61 S Cone CS: Normal vs. Deficiency 0.90 S Cone CS decreased 1.9X in color deficiency Mean ± 1 SE 1 D R E Z U 2 F V N H P Normals 3 R P F D U 0.60 Log CS Blue Cone CCT 1.9X 4 N Z V E H Color Deficiency H R P E D Normals Color Deficiency Luminance (cd/m2)
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