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Genetics Fellowship > Retinal diseases > Flashcards

Retinal diseases Flashcards

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1
Q

AMD risk factors

A

age, smoking, +FHx, female, light iris, hyperopia, HTN, hyperchol

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2
Q

what is the difference of soft vs hard drusen?

A

Hard: nodular thickening of BM of RPE• Soft: focal PED (separation from Bruch’s)

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3
Q

drusen size?

A

Small 64 mic; med 64-124, large>124

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4
Q

DDX Geographic Atrophy

A

1) central areolar choroidal dystrophy2) Sorsby macular dystrophy3) NC macular dystrophy

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5
Q

what is Cuticular (Basal Laminar) Drusen?

A

Type of early hard drusen (age 30-40s)• Many small, uniform, demarcated drusen,better seen on FA with“stars-in-the-sky” appearance• May develop large vitelliform detachment

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6
Q

what is reticular drusen? (PSEUDODRUSEN)

A

• Interlacing network of 125-250um drusen• First appear in superotemporal macula• Better seen on red-free, NOT on FA /ICG• “Sawtooth” subretinal deposits on OCT

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7
Q

AREDS– Components?

A

Vitamins C & E, beta carotene, copper, zinc

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8
Q

AREDS study details

A

25% reduction in progression to advanced AMD– 19% reduction in VA loss over 5 yrs– Criteria?• Bilateral intermediate (many int or 1 large)• Unilateral advanced AMD (wet AMD or GA)– Avoid in smokers?• Beta carotene

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9
Q

AREDS 2 components

A

Antioxidants w/o beta carotene• Omega-3 fatty acid• Xanthophylls (zeaxanthine, lutein)

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10
Q

Framingham Eye Study:

A

6% in age >65• 20% in age>75

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11
Q

Choroidal Neovascularization (CNV)• Classificaton?

A

Type 1– Under RPEType 2– Between RPE + photoreceptorsType 3– Retinal angiomatous proliferations (RAP)

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12
Q

classic CNV - on FA definition

A

Early hyper + late leakage

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13
Q

occult CNV definition

A

Stippled/granular early hyper + late stain– 2 types: fibrovascular PED vs. lateleakage of undetermined source

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14
Q

CNV types?

A

Predominantly Classic (>49% classic)– Minimally Classic (

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15
Q

Retinal Angiomatous Proliferation (RAP) classification

A

Stage 1– Intraretinal NV / leakageStage 2– Subretinal NV + serous PEDStage 3– Choroidal NV + fibrovascular PED– FA: retinochoroidal anastamoses

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16
Q

what is Pegaptanib (Macugen)

A

pegylated anti-VEGF RNA aptamer• binds VEGF 165• 0.3mg

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17
Q

what is Ranibizumab (Lucentis)

A

its:48kD Fab of Mab (

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18
Q

Bevacizumab (Avastin)

A

full-length Mab + Fc• targets VEGF-A• 1.25mg, 2.5mg

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19
Q

Aflibercept (Eylea)

A

ligand-binding domain of VEGFR ½ + IgG Fc• binds VEGF-A & placental-like GF• 2mg, 4mg

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20
Q

PDT- Regular vs. Reduced fluence?

A

Regular: 600mW/cm2- Reduced: 300mW/cm2

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21
Q

Vision Study

A

Macugen q6wks x 48wks > sham– improved VA in all CNV

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22
Q

MARINA

A

Lucentis q4wks x 2yrs > sham– Minimally-classic or occult w/o classic CNV

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23
Q

ANCHOR

A

Lucentis q4wks x 2yrs > PDT q3mo PRN– Predominantly-classic CNV

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24
Q

PIER

A

Lucentis q4wks x 3 then q12wks– Steady decline after 3mo c/w q4wks

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25
Q

PrONTO

A

Lucentis q4wks x 3 then PRN (VA loss + fluid, CRTinc, mac hem, new cl CNV, persistent fluid s/p inj)– Comparable to q4wks; 5.6inj/yr, but q4wk visits

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26
Q

SUSTAIN

A

Lucentis q4wks x 3 then PRN (VA loss, CRT inc)– Comparable to q4wks; 5.3inj/yr, but q4wk visits

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27
Q

HORIZON

A

MARINA/ANCHOR/FOCUS pts tx w/ PRN Lucentisq4wks s/p 2yrs– Continued less frequent dosing -> VA loss

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28
Q

CATT

A

Lucentis = Avastin q4wks or PRN in VA ( Avastin q4wks or PRN in OCT fluid (~10%)– Avastin > Lucentis in adverse events (24 vs 19%)

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29
Q

FOCUS

A

Lucentis + PDT > PDT alone– Predominantly-classic CNV

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30
Q

SUMMIT (MONT BLANC, DENALI, EVEREST)

A

Lucentis + PDT = Lucentis alone– Except IPCV (Lucentis + PDT > Lucentis)

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31
Q

CABERNET

A

Lucentis + epimacular brachy vs Lucentis

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32
Q

RADICAL

A

– Lucentis + PDT + Dexamethasone vs Lucentis

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33
Q

VIEW1 & 2

A

Eylea q1mo x 3 -> q2mo = Lucentis q1mo

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34
Q

HARBOR

A

Lucentis 0.5mg q4wks vs PRN vs 2mg q4wks vsPRN

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35
Q

AMD clinical trials

A

Marina - lucentisAnchor - lucentisCATT - avastinVIEW- Eylea

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36
Q

DME clinical trials

A

RISE & RIDE - lucentisDRCR.net - avastinVIVID/VISTA-DaVINCI- EyleaDRCR.net - triamcinoloneRetisert - ElliotFAME- Illuvien

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37
Q

RVO clinical trials

A

BRAVO/CRUISE - lucentisCRAVE - AvastinCOpernicus/Galileo/Vibrant - EyleaSCORE - triamcinoloneJaffe/Jain - Retisert

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38
Q

Causes of CNV?

A

1) AMD2) Myopic degeneration3) POHS4) Angioid streaks5) IPCV

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39
Q

what is Idiopathic Polypoidal ChoroidalVasculopathy (IPCV or PCV)

A

Multifocal, recurrent serous PEDs– Saccular choroidal outpouchings– More common in?• African-Caribbeans & Asians(accounts for >30% of exudativemaculopathy in Asian populations)

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40
Q

FA in Idiopathic Polypoidal ChoroidalVasculopathy (IPCV or PCV)

A

Early hyperfluorescent polyps andhypofluorescent halos• Polyps better seen on ICG

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41
Q

PCV treatment

A

Anti-VEGF, PDT, or combined• Only disease in SUMMIT trial tohave improved response tocombined anti-VEGF + PDT

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42
Q

what is Sorsby macular dystrophy

A

looks like GA- autosomal dominant- inherited dystrophy- by TIMP3 gene- normal vision until age of 40’s- then develop BILATERAL multiple CNVs- later looks like GA with lots of pigment clumps, this is perhaps the differentiation- early they have mid-peripheral drusen, night vision problems

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43
Q

Malattia levintinese

A

-drusen distributed radially on the macula.- very similar to AMD-EFEMP1 gene, malattia levintinese is now thought to be a variant of Doyne’s disease.

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44
Q

Doyne’s honeycomb retinal dystrophy

A

-similar to those of AMD:-Symptoms typically arise during the fourth or fifth decade of life.- autosomal dominant pattern of inheritance.gene EGF-containing fibrillin-like extracellular matrix protein, abbreviated as EFEMP1. The protein, whose function is

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45
Q

CACD Central areolar macular dystrophy

A

-hereditaryatrophy of RPE and choriocapillaris-AD-gene: PRPH2 (previously known as RDS/peripherin

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46
Q

NC macular dystrophy

A

The disorder was initially described in a family of Irish descent in North Carolina, and affected individuals have been identified in European, Asian and South American families as well.

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47
Q

RAP lesions

A

its an occult CNV with proliferation of intraretinal capillaries in the paramacular area with contiguous telangiectasic response.Stage 1: intraretinial capillaries proliferationstage 2 subretinalstage 3 PEDstage 4 cnv- clinically similar to patients with AMD. -, these patients tend to be slightly older (80) than the patients with both classic and occult CNV. -bilateral, -lesions presenting juxtafoveally.-clinical features of RAP include retinal and preretinal hemorrhages as well as pigment epithelial detachments.

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48
Q

PCV

A

-its a form of intra-choroidal cnv-very common in Asian (>50% of AMD is PCV there) -characterized by large-caliber feeder vessels perfusing intrachoroidal branching arteriolar networks that terminate in one or more intrachoroidal polypoidal structures,-Cl

49
Q

what is trichromatism?

A

that is normal color vision(mixture of red, green and blue)

50
Q

what is protanopia?

A

Abnormal RED sensitive cone. confuse red and green

51
Q

what is deuteranopia?

A

abnormal GREEN-sensitive cone. confuse reds and greens.

52
Q

what is tritanopia?

A

abnormal BLUE-sensitive cone. confuse blue and yellow

53
Q

the majority of color blind (or color weak we should say) are?

A

protanopes and deuteranopesNo problem with traffic lights because they can distinguish red from greenThey will have problmes for example distinguishing pink form green though.

54
Q

what is the meaning of Tritan , protan and deutan?

A

tritan (blue-yellow)protan-deutan (red-green)

55
Q

most color blindness is inherited in which way?

A

X-linked recessivethe most common color blindness is protanopia and deuteranopia and this are x-linkedthey are more common in man The tritanopia is AD but is very rare

56
Q

what is achromatopsia?

A

absence of color discrimination.but its not only that unfortunately.they have nystagmus, photophobi and very poor vision.get an ERG

57
Q

what percentage of general population are color weak?

A

5-8%

58
Q

ERG in achromatopsia?

A

normal rod function but absent cone responses

59
Q

CSNB inheritance?

A

X-linked (most common) -Xp11 rhodopsin geneADAR

60
Q

tell me about CSNB

A

patients have night blindnessdifficulty seeing in the darkalso have myopia-nystagmus-poor vision-strabismusITS a RARE diseasemost common is x-linkedIts NON-progressive (or STATIONARY)symptoms present from birthTWO forms:complete - all pts have night blindnessincomplete - not all pts have night bllindness

61
Q

mutations for CSNB?

A

NYX - completeCACNA1F - incomplete

62
Q

x-linked inheritance? tell me more

A

x-linked (signigica que Affecta mas a los machos) machos X ….s-linked macho afectado.Macho Bueno no le pasa a su hijo.LAs mujeres son portadoras

63
Q

CSNB exam?

A

vision 20/60 to 20/200normal DFEsevere myopianystagmussome patients do not complain of nictalopia (porque ya estan acostumbrados desde ninos)

64
Q

what is a difference between CSNB and RP?

A

in RP there is photoreceptor damabe while in CSNB it appears to be a problem in the communication of photoreceptors with bipolar cells.That is why you see the NEGATIVE-ERG which is a normal a-wave but no b-wave

65
Q

what is this ERG pattern?

A

its the negative ERGnormal a-waveabsent b-wave classic of CSNB

66
Q

what is this fundus?what is the differential?how do you differenciate?

A

* fundus albino-puntata (FAP) (abnormal ERG that recovers with dark adaptation. Problem is that after light the rodopsin takes a long time to recover. * very similar to RETINITIS punctata albescence * the difference is that RPA es la prima de RP. So RPA has narrow vessels and severely depressed ERG.

67
Q

RP has a cousin which one?

A

RPA retinitis punctata albesenceremember because of the word retinitismultple white dots in the retina. ERG severely depressed. narrow vessels.

68
Q

what is this disease?patient has nictalopiathe DFE is abnormal, RPE degeneraiton arounf vascular arcadesCME

A

enhanced-S-cone syndrome(S for short wavelength 0 blue catching cones affected)

69
Q

how many geetic disroders affect the eye?

A

750!!!!they are listed in theOnline Mendelian Inheritance in Man (OMIM) RetNet lists 200 retinal degenerations

70
Q

what % of pedigrees give useful info on the disease?

A

about 60%

71
Q

most inherited eye disease are? uni or bil?

A

BILATERAL!!!!!!

72
Q

ERG:non-recordable?

A

* LCA * RP * total retinal detachment

73
Q

non-recordable PHOTOPIC ERG diagnosis of?

A

AchromatopsiaCone degenerationsx-linked blue monochromatism

74
Q

What do you think with this ERG:non-recordable ROD-ERGabnormal bright adapted bright flashnormal Photopic ERG

A

CSNB

75
Q

non-recrodable sctotopicabnormal photopic b-wave

A

RPLCAchoroideremiaretinitis punctata albesens

76
Q

abnormal cone and ROD b-wave amplitudes

A

Cone-rod degenerations

77
Q

negative ERG(in the dark-adapted ERG bright flahs light, the a-wave is noral but the b-wave is absent)

A

CSNBenhanced-S-cone dystrophyX-linked retinoschisisautoinmmune retinopathies

78
Q

GVF i RP, which is early and which late on the disease?

A

left - earlyright - late

79
Q

define RP

A

IS A GROUP of inherties retinal disorders characterized by photorecetor loss, abnormal VFs

80
Q

RP without bone spicules is called?

A

retinitis sin pigmento

81
Q

what is RP?

A

* is a group of reitnla disorders * characterized by progressive VF loss * and abnormal ERG can be primary (affecting only eyes)secondary (affecting other organs)

82
Q

* in RP, besides the * waxy ON pallor, * vessel narrowing bone spicules….. * what else can you find?

A

CMEno bone spicules (RP sin pigmento)loss of foveal reflexsmall PSC (usualy NVS)

83
Q

RP relatives?primos de RP? and their features?

A

* RPA retinitis punctta albsecense (deep white dots) * choroideremia (choriocapillaris atrophy) * RDS/perypherin mutations (RPE atrophy) * RP12 preserved parareteriolar RPE *

84
Q

RP ERG changes??

A

a-wave and b-wave abnormalb-w prolonged in time and diminished in amplitude

85
Q

what RP variant is this?

A

RPA

86
Q

what to think in a pt with DFE looking like RP, blind but no fmaily hx of RP?

A

think also of mimmickers such as: * diffuse uveitis * crao old * paraneoplasic syndromes * retinal drug toxicity

87
Q

other rare variants of RP?

A

sectorial RPcentral RP (from center to periphery)pericentral RP (ring scotoma)

88
Q

what type of RP is this?

A

sectorial RP

89
Q

how many differet GENETIC types of RP are there?

A

* more than 100\with more than 50 genes * the most common is ADRP (autosomal dominant RP - 20%) * the first tmutaiton discovered was in rhodopsin gene * RDS/perypherin mutaitons have a wide range form RP to pattern dystrophies

90
Q

what is peripherin?

A

is a protein in the peripheral aspect of the photoreceptor discs

91
Q

what is rhodopsin?

A

* it is a BIOLOGICAL pigment * it is a LIGHT SENSITIVE PIGMENT * found in ROD cells * it is a G-coupled proteinreceptor * very very sensitive to light * useful to allow vision in the dark

92
Q

inheritance of RP

A

most common ADRP (20%)second Recessive RP (20%)XLRP (10%)40% have no family history in the US

93
Q

tell me about LCA

A

it is the infantile and early childhood form of RP. * 9 mutations * most cases are AR * poor vision from birth * wondering nystagmus * abnormal ERG * oculodigital reflex * some vision from 20/200 to LP * fundus can be normal initially * later there can be ROUND pigment spots * normal inteligence * ERG is minimal or undetectable

94
Q

what is CME in RP does not respond to acetazolamide?

A

try triamcinolone (mixed results

95
Q

what can you tell me about RP treatments with Vit A?what about fish oil?light protection?

A

* some clinical trials shows some slower progression in patients receiving 15KU/day of vit A. But the risk of liver toxicity and teratogenicity in pregnant woman outweights the potential benefits. * fish oil appeared to not be efefctive (although pts with high DHA concentrations had slower progression. * an study with an opaque contact lens on one eye showed those patients did not have any different outcome in that eye compared to their control eye. Regardless, it makes sense to offer UV light protection

96
Q

is cone dystrophy the same as color blindness?

A

NO!!!color blindness you are weak to see some colors but there is no retinal degeneration.Patients with color blindness are weak color perceivers but VQ is normal.colo

97
Q

tell me about cone dystrophies

A

progressive loss of VISION and COLOR DISCRIMINATION and HEMERALOPIA (day blindness) and photophobia DFE is normal or bull’s eye * group of diseases * onset in teenagers or youung adults * abnormal PHOTOPIC ERG * nromal rod-isolated SCOTOPIC ERG * nromal visual fields * soem could have normal full field ERG but abnormal pattern ERG at center * could be AD, AR, XL * 12 genes

98
Q

if nictalopia is for RP, hemeralopia is for?

A

cone dystrophies

99
Q

this fundus in a patient withpoor visionnormal GVFnormal scotopic ERGabnormal photopic ERGhemeralopia

A

cone dystrophies

100
Q

tell me about cone-rod dystrophies

A

* on ERG the hotoptic and scotopic responses are abnormal * BUT…. * the photopic is way much worse than scotopic * (This can happen in stargardts as well) * this is a variant of stargardts?

101
Q

tell me about Stargardts

A

* its the most common juvenile macular dystrophy * usually AR but few AD have been reported * ABCA4 gene which encodes for an ATP-binding cassette transported protein by rod outer segments * mutations in RDS/perypherin gene as well although less common * juvenile onset foveal atrophy * yellowish discrete flecks at levele of RPE * if flecks are dispersed then its called fundus flavimaculatus * dark choroid on FA (80% of stargardts patients) * dark choroid is very specific but the absence does not r/o the disease. * TRIAD: vision loss with 1) dark choroid 2) flecks 3) macular atrophy * slowly progressive

102
Q

tell me about best disease

A

* AD maculopathy * due to mutation in VMD2 gene * chromosome 11 * gene encodes for bestrophin * bestrophine is in the lateral wall of RPE cell * bestrophin is a chloride channel protein. The malcfunction results in lipofuscin accumulaiton. * yellow yolk like lesion * breaks in to scrambled egg * late in disease looks like any macular dystrophy * 30% have extrafoveal lesions * GOOD vision. Many with 20/30!!! * CNV can develop and ruin the party in one eye * ERG normal * EOG abnormal * Arden ration is <1.5 and often <1.1 * Arden ration is the ratio of peak response to light compared to darkness

103
Q

tell me about AOFMD

A

* adult onset * its a PATTERN dystrophy (meaning that is caused by RDS/perypherin gene * several bilagteral 1/3 DD in size with central dark pigment * patiwnets retain decent vision in one eye * AD * EOG is normal

104
Q

tell me about FAMILIAL drusen

A

* this is drusen in YOUNGaptients (like 20 yo for ex) * numerous and different sizes * typically extramacular beyond arcades * most are AD but many no inheritance * if tiny drusen its cuticular drusen

105
Q

tell me about pattern dystrophies

A

* are 4 Pattern dystrophies * AOFMD * Butterfly * reticular * fundus pulverulentus ALL have in common: * onset midlife * orange,gray, yellow deposits at RPE * AD * mpst AD forms are related to RDS/peripherin gene * phenotype can very among families and amoing eyes of the same patient! * most common presentaiton is decreased vision and metamorphopsia * ERG is normal * most patients retaiin reading vision in one eye * central atrophy is the final problem

106
Q

tell me about Sorsby macular dystrophy

A

* BILATERAL subfoveal CNV * onset 40 y.o * AD * develop in to geagraphic atrophy * early sign is many drusen and RPE deposits bilateral in yound patient * gene is TIMP3 (metalloproteinase) * chromosome 22

107
Q

50 y/o pt what is this?

A

AOFMD

108
Q

young patient with this?

A

best disease

109
Q

what pattern dystrophy is this?

A

butterfly

110
Q

what is this drusen type?

A

familial drusen

111
Q

what is this in a young patient?

A

startgardts

112
Q

what is this? bilateral in a 40 y/o

A

Sorsbybilateral subfoveal CNV in a 40 y/o

113
Q

genes for: * stargardts * AOFMD * sorsby * pattern dystrophies * best disease

A

* ABCA4 * RDS/perypherin * TIMP3 * RDS/peripherin * VMD2

114
Q

good or bad prognosis for: * stargardts * best * AOFMD * familial drusen * pattern dystrophies * sorsby

A

* poor but slowly progressive * BEST and GREAT prognosis 20/30 * decent vision in one eye * good if not affecting fovea * retain reading vision in one eye * poor

115
Q

inheritance for: * stargardts * best * AOFMD * familial drusen * pattern dystrophies * sorsby

A

AR (stargardts) * AD * AD * AD * AD * AD

116
Q

BILATERAL subfoveal CNV in a young patient?

A

sorsby

117
Q

how can you call the extramacular drusen?

A

familial drusen. IF:young patient

118
Q

where is the bestrophin and what is the action of it?

A

located at the lateral wll of RPE cellsits a chloride channel protein

Genetics Fellowship (22 decks)

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