Acquired Macular Diseases Flashcards
1
Q
name 7 acquired macular diseases
A
-age related macular degeneration
-central serous retinopathy
-drug related retinopathies
-idiopathic macular hole
-epiretinal membrane
-cystoid macular oedema
-myopic maculopathy
2
Q
what is AMD?
A
a progressive disease of the retina occurring in people over 55 years old causing damage to the macula resulting in loss of central vision while peripheral vision is usually spared
3
Q
what kind of complaints do AMD patients report?
A
-reduced reading ability
-reduced ability to recognise people’s faces
-difficulty making out what people are saying
-initially starts out as distortion which turns into blur as central vision loss
4
Q
what is the difference between prevalence and incidence?
A
Prevalence is number of cases overall and incidence is the number of cases per year
5
Q
What are general stats on AMD?
A
-most common cause of blindness certification in people over 65 in the UK
-up to 30 million worldwide have AMD
-incidence of AMD in US is up to 200,00 people per year are diagnosed
6
Q
what stats indicate AMD is increasing in prevelance?
A
-US and UK studies suggest that 20 –30 % of patients over the age of 65 are affected with AMD
-n UK 16 % of the population is currently over the
age of 65 and therefore at significant risk of
developing AMD
-The current demographic projections indicate that
the segment of the UK population over the age of
65 will increase by 29 % in the next 20 years
7
Q
name the risk factors of AMD and state which is most common
A
– ageing
– smoking = most common
– family history AMD
– fair skin, light iris colour
– hypertension
– arteriosclerosis
– prolonged exposure to sunlight
8
Q
pathogenesis of AMD
A
-drusen forms between bruchs membrane and the retinal pigment epithelium in dry AMD
-abnormal blood vessels grow under the rpe through retinal layers in wer AMD
-this is affected by genes, choroidal blood flow and inflammation
9
Q
which form of amd is most common?
A
dry amd - 85-90% have dry amd and 10-15% have wet
10
Q
what is the difference between dry and wet AMD?
A
dry is based on the absence of abnormal growth of blood vessels under the retina whereas wet is based on the presence of abnormal growth of blood vessels under the retina so in wet amd you would see blood leakages and drusen whereas in dry you would see just drusen
11
Q
why does wet AMD cause more rapid and severe vision loss than dry AMD?
A
as in wet amd, the growth of abnormal blood vessels can cause leakage, bleeding and scarring
12
Q
what are the signs if dry amd?
A
-non exudative
-drusen usually bilateral
-rpe hyperpigmentation
-geographic atrophy (later stage): round/ oval and well demarcated atrophy patches in the parafoveal/ foveal region
13
Q
What are the three types of drusen?
A
-hard
-soft
-diffuse
-calcified
14
Q
what does hard drusen look like?
A
Nodular, appear as
small discrete
yellowish-white spots
15
Q
what does soft drusen look like?
A
– indistinct edges
– larger than hard drusen
– frequently become
confluent
16
Q
describe diffuse drusen
A
– Represent a
widespread
abnormality of the
RPE
17
Q
what’s different between the symptoms of dry and wet amd?
A
wet amd onsent of symptoms is sudden whereas in dry its gradual
18
Q
what are the investigations for suspected amd in primary care?
A
-best corrected distance and near vas
-amsler grid
-fundoscopy
-oct
19
Q
what is the neovascularisation in wet amd called?
A
-subretinal neovascular membrane (SRNVM) or choroidal neovascularisation (CNV)
20
Q
what are the signs of wet AMD?
A
-pigment epithelial detachment
-retinal thickening and elevation
-subretinal fluid pinkinsh/ grey in colour
-blood
-exudate
-fibrosis
21
Q
what amd investigation are done at secondary/ tertiary referral?
A
Further OCT, OCTa
22
Q
why may you not advise a patient with AMD to get surgery?
A
May not be realistic as it is a complex surgery which may not have a positive outcome for majority of patients
23
Q
what can high speed video
angiography be useful for when investigating amd?
A
it can help show feeder vessels in choroidal neovascularisation of wet amd
24
Q
what referrals should you give for the two types of amd
A
wet - URGENT
dry - non urgent
25
what are the treatment options for geographic atrophy of amd?
none proven but
-give advice on lifestyle, diet,
smoking, hypertension,
sunlight
-encourage patient to self monitor weekly with amsler grid and to come back if there are any changes or they think their vision gets worse
-use of low vision aids (LVAs)
-visual rehab by teaching extra foveal fixation and reading startegies
26
what is the main treatment for cnv in AMD? How does it work? What are the most common drugs?
-anti-VEGF injections
-anti-VEGF will bind to the VEGF molecules in the retina, thus blocking their ability to cause abnormal blood vessel growth beneath the retina, which leads to "wet" AMD
-most common used drugs are lucentis and avastin
27
what were the historical treatments for CNV in AMD?
* Argon laser for extra and juxta-foveal lesions
* PDT for sub-foveal classic or predominantly classic lesions
28
what is the treatment plan with anti-VEGF for amd?
* Intra-vitreal injection
dosage schedule
* Initially monthly
* Monitor with OCT
* 3 monthly review
29
what are the three types of surgery options being researched for amd treatment?
– submacular surgery
– macular translocation
– retinal implants
30
what future therapies are being researched for amd treatment?
– based on genetic knowledge- gene therapy
– Stem cell therapy- eg RPE sheets
31
name the surgery for wet amd and how it works
Submacular surgery to remove CNV
1. the eye wall is shortened and the macula is moved
away from the abnormal blood vessel under it.
2. Then laser surgery can be performed to destroy the
abnormal blood vessels without harming the macula.
3. initial results show that significant improvement in
vision is possible with this procedure.
32
who does central serous retinopathy usually affect?
young-middle aged men
33
what are some associations with central serous retinopathy?
– steroid usage, stress,
hypertension, headache
-those with immune diseases like psoriasis and eczema
– Rarely: pregnancy,
SLE, hemodialysis,
Cushings syndrome
34
what is central serous retinopathy?
localised shallow detachment of the sensory retina
35
what are 2 features of central serous retinopathy CSR
idiopathic and usually unilateral
36
what are the symptoms of CSR?
* Blurred vision
* Distortion
* Micropsia
* Positive scotoma
37
what can you see on an oct of someone with csr?
subretinal fluid
38
what are the signs of csr?
-variable VA
-amsler central distortion
-localised fluid in the fundus, bulls eye maculopathy as it looks like a bulls eye
39
what is pathogenisis of csr linked to?
increased permeability in choriocaplilaris, otherwise its unclear what causes it
40
what is treatment and prognosis of csr?
* Expectant: avoid steroids
* 90% recovery, usually 6 weeks
* Wait at least 4 months if have to treat:
– Laser may speed recovery but not alter outcome
* Argon laser photocoagulation
* Recurrence 30-50%
* Mostly within 1 year
41
why may people with breastcancer develop retinal problems?
as Tamoxifen is used as an oestrogen drug used to treat breast cancer but can cause tamoxifen retinopathy.
42
what is a sign of tamoxifen retinopathy and what should you do if you see it?
idiopathic macular hole which should be referred but it is not an emergency as the px probably had it for months before you saw it as it does not necessarily come with symptoms
43
what is the management plan for tamoxifen retinopathy
usually doesnt get treated in early stages as it doesnt get worse, if necessary a vitrectomy can be done
44
name 2 drug related retinopathies
-hydroxychloroquine retinopathy
-tamoxifen retinopathy
45
what is the current guidance if someone is at risk of drug related retinopathy?
that patients should be offered an annual fundus examination with widefield fundus autofluorescence (FAF) after they’ve been taking the medication for a certain period of time:
-SD OCT rather than TD as resolution on TD is too poor
-if there is abnormality suggestive of toxicity, Px should get 20-2 or 20-3 humphrey visual field testing
46
what is the most common sign of hydroxychloroquine retinopathy?
bulls eye maculopathy
47
what is the main symptom of hydroxychloroquine retinopathy?
central vision loss
48
in routine screening for patients at risk of drug related maculopathies, when may the patients be considered for multifocal electroretinography?
Patients with persistent and significant visual field defects consistent with hydroxychloroquine retinopathy, but without evidence of structural defects on SD-OCT or FAF
49
what are the symptoms of idiopathic macular hole?
– Variable visual loss (Depends size, location)
– Metamorphopsia
50
what are the predispositions of idiopathic macular hole>
-elderly female
-trauma
-myopia
-chronic CMO
51
what is the pathogenisis of idiopathic macular hole?
1. Early localised
perifoveal vitreous
detachment
2. Static and dynamic
traction
3.complete vitreous separation
4. separation of pseudo-operculum from edge of hole
5. separation of cortex from retinal surface to form pseudo operculum
52
what happens in a vitrectomy?
-core vitreous and posterior hyaloid membrane is removed
-fluid-gas exchange for tamponade
53
what are the two effects of idiopathic premacular fibrosis?
-cellophane maculppathy
-macular puckering
54
what are the signs of cellophane maculopathy?
*Translucent ERM
* Fine retinal striae and mild vascular distortion
55
what are the signs of macular pucker?
* Severe wrinkling
* Opaque
* May have pseudohole appearance
56
give 4 symptoms of idiopathic premacular fibrosis
* VA reduced
* Distortion
* Binocular diplopia
* macropsia
57
what can idiopathic premacular fibrosis be associated with?
– Retinal vascular disease
– Venous occlusions
– Diabetic retinopathy
– Uveitis
– Trauma
– Retinal detachment
58
what us the treatment and prognosis for idiopathic premacular fibrosis?
* None if asymptomatic
* Pars plana vitrectomy
and peel
* 70-80% patients gain
2 lines VA
59
what are the 5 causes of cystoid macular oedema?
– Retinal vein occlusion
– Diabetic retinopathy
– Post cataract surgery (1-3 months later)
– Uveitis
– Retinitis pigmentosa
60
how is cataract surgery a cause of cystoid macular oedema?
Particularly if there has been vitreous loss
or vitreous incarceration
61
What are the signs of cystoid macular oedema?
-honeycomb pattern of retinal thickening
-loss of normal foveal reflex
62
what are the symptoms of CMO?
-hyperopic shift which means near vision becomes more difficult
-blur or distortion
63
what are the signs of CMO?
– Honeycomb pattern of
retinal thickening
– Loss normal foveal
reflex
64
for cmo what does:
fluid filled angiography look like?
lacunae fluid filled microcysts look like?
-Characteristic petalloid
appearance
-Lacunae, fluid filled microcysts
65
what does pathogenisis of cmo look like
* Accumulation of fluid in outer plexiform
layer
* Due to disturbed blood-retinal barrier
* Vitreous traction may be involved
* If chronic, the cysts may coalesce to form
lamellar/ full-thickness macular hole
66
what can you use to prevent CMO?
use of pre-cataract surgery
topical NSAIDs
67
give some clinical features of pathological myopia
* Atrophy
* Lacquer cracks
* Macular haemorrhage
* Foster-Fuchs spot
* Tilted disc
* Posterior staphyloma
* Peripheral chorioretinal degeneration
* Lattice degeneration, holes and retinal detachment
68
what can cause progressive chorioretinal atrophy?
slowly
progressive
enlargement of globe
may be asscoiated with macular hole
69
what do lacquer cracks show?
spontaneous rupture of bruch's membrane and show up as irregular yellow/ white lines
70
what are Fuchs spots?
secondary pigment proliferation (pigmented scar secondary to central foveal haemorrhage)
71
what is peripapillary atrophy?
stretching of the posterior pole resulting in drag of the choroid and RPE creating a temporal crescent on the disk margin
72
how do you treat a macular hole?
vitrectomy
73
give an example of an outer retinal dystrophy and what type of dystrophy it is
retinitis pigentosa is a rod and cone dystrophy
74
what are the symptoms of retinitis pigmentosa? when do these present for the different inheritance patterns?
-nyctalopia = night blindness, people dont usually know if they have it as they dont realise it is unusual that they cannot see in the dark
-visual field loss = ask patients if they often bump into things
usually present before age 30 but x linked can present earlier and dominant presents later
75
what type of inheritance do most cases of retinitis pigmentosa come from?
Dominant inheritance
76
what are the clinical features of retinitis pigmentosa?
-fine dust like pigmentation, initially mid periphery
-arterioalar attenuation
-large choroidal vessels become visible
-optic disk pallor
-maculopathy of cystoid macular edema
-usually spreads anteriorly and to the periphery
77
how do different inheritance types affect prognosis of retinitis pigemntosa?
-dominant is often milder, later onset
-recessive is often more severe with early onset
-x-linked is severe
78
what does VF look look like when investigating retinitis pigmentosa?
-initially there is a mid-peripheral ring scotoma
-later the VF becomes constricted with remaining central tunnel of vision
79
how can you investigate retinitis pigmentosa signs?
-visual fields
-ERG as initially the a waves are reduced and prolonged and with time, they become unrecordable
80
name 3 eye diseases people with retinitis pigmentosa are likely to have
Cataract
Vitreous degeneration
Myopia
81
name 3 eye diseases people with retinitis pigmentosa could possibly have
Keratoconus
Open angle glaucoma
Optic disk drusen
82
what is the pathogenesis of retinitis pigementosa?
starts of with:
-photoreceptor degeneration
-atrophy of retina and RPE
-migration of RPE into retina
-thickening of vessels
-atrophy of optic nerve
due to the 50 genes and genetic loci identified to date
83
give 2 examples of genes that cause retinitis pigmentosa
-rhodopsin gene
-peripherin gene
84
what are 4 ways retinitis pigmentosa is managed
-yearly refraction, LVA (low vision assessment), VFs
-if there is CMO use diamox (acetazolamide)
-if there is cataract then surgery
-high dose vit a therapy but controversial
85
give 6 systemic associations with retinitis pigmentosa
* Usher syndrome
* Bardet-Biedl syndrome
* Refsum’s
* Abetalipoproteinemia
* Alstroms
* Kearns-Sayre
86
what is the inheritance type for choroideraemia?
-X-linked recessive so mostly male patients but is rare
87
when does choroideraiemia present?
in the first decade of life as nyctalopia
88
what are the 3 main symptoms of chlorideraemia?
-night blindness
-peripheral visual field loss
-central vision decline (later on)
89
what are the clinical features of chlorideraemia?
-RPE and choroidal atrophy- circumscribed
-starts in periphery/ equator with pigment mottling and then spreads to mid-periphy, centre and far periphery
-fovea is spared until late
90
what are the signs of a female carrier of retinitis pigemntosa?
ASYMPTOMATIC
-central patchy atrophy
-RPE mottling
-peripheral diffuse pigmentary granularity
-normal ERG
91
what does FFA look like in choroideremia?
-normal retinal vasculature
-diffuse loss choriocapillaris
-hypofluorescence at fovea
-surrounding irregular hyperfluorescence
92
what is the inheritance for best's disease?
autosomal dominant
93
when does bests disease present?
in the first decade
94
what are the symptoms of bests disease?
-slow progressive visual loss
-metamorphopsia
-central scotomas
95
what are the levels of bests disease?
there are stages from 1-5 where 1 is asymptomatic
96
what are the clinical features of stage 2 best's disease?
– Characterised by: yellow, egg yolk-like lesion
at level of RPE
– VA normal or slightly reduced
– Vitelliform lesions are typically bilateral,
symmetrical
– 0.5 to 2 disc diameters
97
what are the clinical features of stage 4 bests disease?
* RPE atrophy
* ‘Scrambled egg’
* VA moderate decrease
98
what are the clinical features of stage 5 bests disease?
significant damage to RPE so
Macular scar or
atrophy
* VA moderate to severe
loss
* Severe visual loss if
develop CNV = retinal bleeding causing choroideremia
99
how can you diagnostically test Best's disease?
* Fundal appearance
* Fluorescein
angiography
* Electrophysiology:
normal ERG, reduced
EOG light rise
100
what is the pathogenesis of choroideremia?
*Deletionof REP-1 gene
* Codes for Rab escort protein
* This protein is part of Rab geranylgeranyl
transferase: which regulates intracellular
protein transport
101
what is the pathogenesis of Best's disease?
-vitelliform macular dystrophy type 2 gene (VMD2) is defective
-this normally encodes protein bestrophin so theres a lack of it
-no bestrophin so impaired transport of polyunsaturated fatty acids in the retina
102
how do you treat Best's disease?
you only treat if there is CNV:
-consider argon laser or PDT or sub macular surgery
103
what kind of inheritance is stargardt disease?
recessive usually
104
when does stargardt disease usually present?
in the 1st -2nd decade
105
what are the symptoms of stargardt disease?
– Bilateral visual loss in early life: stabilise at 20/200
– Dyschromatopsia
– Central scotomas
– photophobia
106
what are the clinical features of stargardt disease in the central macular?
Oval macular RPE
mottling, or ‘beaten
metal’, or bull’s eye or
atrophy
107
what are the clinical features of stargardt disease in the macula in general?
Widespread flecks,
yellow, at RPE,
pisciform or fish tail
configuration, fade with
time
108
how can you test for stargardt disease?>
-FFA: dark choroid due to blockage
of choroidal fluorescence and Hyperfluorescence at macula: due to RPE atrophy
-ERG
109
what is the pathogenesis of stargardt's disease?
mutations in the ABCA4 gene causing an accumulation of lipofuscin in the RPE
110
what are symptoms of cone dystrophies?
reduction in visual acuity
111
when do cone dystrophies present?
in 1-3rd decades
112
Give 5 clinical features of cone dystrophies
– Normal fundus
– Pigmentary
disturbance
– Bull’s eye
– If rods involved optic
atrophy, bone-spicule
pigmentation and
attenuated blood
vessels
113
name 2 non-progressive cone dystrophies
– Rod monochromatism (AR)
– Blue cone monochromatism (X_L)
114
what are symptoms of sorby's fundus dystrophy and when might it present?
-progressive loss of central vison
-2-4th decade
115
give 5 clinical features of Sorsby’s fundus dystrophy
* Yellow-white, confluent plaques
* Beneath RPE
* When advanced: CNV
* Maculopathy evolves into atrophy,
subretinal fibrosis
* Very poor visual prognosis
116
what is the pathogenesis of Sorsby’s fundus dystrophy
Thickening of Bruchs membrane, secondary to lipid deposits between RPE basement membrane and the inner collagenous zone due to TIMP3 gene defect which usually codes for metalloproeinase-3 tissue inhibitor
117
for Leber’s Congenital Amaurosis,
-what kind of inheritance is it?
-when does it present?
-what are the symptoms?
* AR
* Presentation:
– Poor or no apparent
vision at birth, severe,
congenital
* Symptoms:
– Very poor vision
– photophobia
118
what are the clinical features of Leber's congenital amaurosis
*Eye rubbing:
oculodigital syndrome
* Nystagmus
* RAPD or sluggish
pupils
* hyperopia
119
what are the signs of leber's congenital amaurosis? what are they associated with?
majority of funduses look normal at birth but may have
– Extensive RPE changes
– Optic nerve pallor
– Vessel attenuation
– Coats-like exudate
associated with keratoconus and cataract
120
how can you diagnose leber's congenital amaurosis?
the ERG is absent or severely reduced
