VSAQ Flashcards
What is the usual inheritance pattern of cone dystrophy?
AD - Most cases are sporadic but of the inherited cases, it is usually AD.
What is the inheritance of Stargardts?
AR
Describe Mizuo phenomenon.
MIZUO PHENOMENON: change in fundus colour between light and dark adapted state in Oguchi’s disease (ie. disappearance of the abnormal shiny yellow-grey fundus colour with prolonged dark adaptation).
OGUCHI’S DISEASE: rare AR type of CSNB with non-progressive night blindness from birth characterised by Mizuo phenomenon.
What is the electrophysiological test used in Best’s disease?
EOG - Defective chloride channel results in low Arden Index (LP/DT) < 1.5 - 1.8
Normal ERG
How do you create cone response in ERG?
Flicker
What structures produce B wave?
Bipolar cells and Muller cells
In juvenile retinoschisis: (1) What layer is the schisis? (2) What is the inheritance?
(1) Between NFL and GCL
2) X-Linked recessive (retinoschisin gene
Systemic associations of angioid streaks.
PEPSI Common:
Pseudoxanthoma elasticum, Ehler-Danlos syndrome, Paget’s disease of bone, Sickle cell disease and other hemoglobinopathies, Idiopathic
LITE Less common:
Lead poisoning, Increased Ca or Phosphate, Tuberous sclerosis and NF, epilepsy
ICG – what wavelength is used?
800 nm absorption
830 nm emission
Penetrates through RPE
What is the most common non-ocular systemic association of RP that is associated with a syndrome?
Hearing loss
Part of Usher syndrome
Conditions associated with retinal dysplasia.
Norrie disease
Incontinentia pigmenti
Warburg syndrome
Causes of bull’s eye maculopathy in 26 year old man with minor difficulties in reading?
DYSTROPHIES: Cone and cone-rod dystrophies, Stargardts, benign concentric annular macular dystrophy
DRUGS: Hydroxychloroquine, chloroquine
Give 2 ocular and 1 nonocular features of Kearns Sayre?
OCULAR: Bilateral ptosis, chronic progressive external ophthalmoplegia, pigmentary retinopathy
NON-OCULAR: Cerebella ataxia, cardiac conduction defects, endocrine dysfunction (diabetes or hypogonadism), deafness, proximal myopathy
(1) What is the pattern of inheritance of hereditary juvenile retinoschisis? (2) Why is it associated with poor central visual acuity?
(1) X-linked recessive (retinoschisin gene)
(2) Central - foveal schisis with atrophic maculopathy; Peripheral - vitreous haemorrhage and retinal detachments
Indication for treatment of maculopathy in BRVO.
Macula oedema and visual acuity of 6/12 or worse at 3 months (BVOS) - grid laser
Macula oedema CMT > 250 μm and visual acuity of 6/12 or worse (BRAVO) - ranibizumab
What are the 2 wavelengths produced by the argon laser?
Argon Blue-Green laser: green 514nm and blue 488 nm
State the two major mechanisms of action of anti-VEGF treatment of AMD subretinal neovascularisation by agents such as Lucentis (ranibizumab) and Avastin (bevacizumab).
(1) Anti-angiogenesis
(2) Reduction in vascular permeability.
List the 2 most commonly recognised ocular paraneoplastic retinopathies.
(1) Cancer-associated retinopathy
(2) Melanoma-associated retinopathy
Give 4 causes of visual loss in BRVO.
(1) Macula oedema (2) Macula ischaemia
(3) Neovascularisation causing VH or RD (4) Rubeotic glaucoma
List 3 systemic associations of Von-Hippel Lindau.
(1) CNS hemangioblastomas - cerebellum, brainstem and spinal cord (2) Phaeochromocytoma (3) Renal cell carcinoma.
List 4 fundus findings indicating ischaemia in non-proliferative DR
(1) Cotton wool spots (2) Venous beading (3) IRMA
List 3 fluorescein angiographic signs of ocular ischaemic syndrome.
(1) Delayed arm to choroid filling time > 5 secs (2) Delayed arteriovenous transit time > 11 secs (3) Late staining of retinal vessel walls (arterioles > venules) (4) Patchy filling of the choroid (5) Intraretinal leakage at macula (6) Capillary non-perfusion
List 4 causes of hard exudates.
(1) DR (2) Hypertensive retinopathy (3) Retinal vein occlusion (4) Retinal macroaneurysm (5) CNVM (6) Retinal telangiectasia
Differential diagnosis of 34 yo male noted on routine eye exam to have CWS in one eye.
(1) DR (2) Hypertensive (3) Ischaemic - retinal vein occlusion or severe anaemia (4) Infectious - HIV, bartonella (5) Neoplastic - lymphoma/leukaemia
List 3 fundus findings in cone dystrophy.
(1) Bull’s eye maculopathy (2) Diffuse pigment granularity of posterior pole (3) Progressive RPE atrophy with geographic atrophy (4) Golden sheen in X-linked cone dystrophy
List 4 risks of laser for treatment of subretinal CNVM.
(1) Scotoma and scar extension (2) Risk of recurrence (3) Foveal burn (4) Subretinal haemorrhage
Give 4 systemic conditions which may influence the severity of diabetic retinopathy.
(1) Hypertension (2) Dyslipidaemia (3) Impaired renal function (both marker of disease severity but can affect DR progression) (4) Anaemia (5) Pregnancy
List 5 causes of choroidal folds
(1) Hypermetropia (2) Orbital mass/retrobulbar tumour (including thyroid eye disease) (3) Hypotony (4) Posterior scleritis (5) Chronic papilloedema (6) Scleral buckle
Four weeks after macular laser treatment in a diabetic there is a sudden drop in acuity from 6/6 to 6/24. Give two macular causes for this.
(1) Increased macula oedema (2) CNVM
Name 3 clinical features associated with a poor visual prognosis in diabetic maculopathy.
(1) Macula ischaemia (2) Hard exudates involving fovea (lipid dump) (3) Chronic oedema with lamella hole formation (4) Diffuse vs focal macula oedema
Give 2 causes of visual loss with retinitis pigmentosa.
(1) Cystoid macula oedema (2) PSCC (3) Retinal degeneration involving macula (4) Macula hole or ERM
Give 4 clinical signs of AMPPE.
(1) Multiple creamy-yellow placoid lesions at level of RPE or choriocapillaris concentrated in posterior pole (2) Old lesions - geographic RPE changes (3) FFA - initial blockage with late hyperfluorescence (4) Minimal AC or vitreous cells
Less commonly: (5) Disc edema (6) Vascular sheathing (7) Rarely get CME (cf birdshot)
Give 4 clinical manifestations of ocular ischaemic syndrome.
(1) Light induced visual loss (delayed recovery) (2) Iris neovascularisation (3) Irregular venous dilatation (4) Mid-peripheral retinal haemorrhages (5) Optic disc pallor or disc oedema (6) NVD (and NVE less common)
How did the ETDRS define ‘clinically significant macular oedema’?
(1) Retinal oedema < 500 μm from fovea (2) Hard exudates < 500 μm from fovea with adjacent retinal thickening (3) Retinal oedema > 1DD, any part of which is within 1DD from fovea
List 4 features of Bardet-Biedl syndrome.
OCULAR: (1) Progressive rod-cone dystrophy with pigmentary retinopathy
NON-OCULAR: (1) Obesity (2) Polydactyly (3) Polycystic kidneys (4) Hypogonadism and hypogenitalism (5) Cognitive impairment
MNEMONIC: “Short, fat, thick, no dick”
List 3 findings on FFA in a patient with cystoid macular oedema.
(1) Progressive hyperfluorescence at macula (2) Late accumulation in parafoveal cystic spaces in petaloid pattern (3) Mild disc leakage (4) Small hyperfluorescent spots due to early leaking in AV phase
List 3 systemic risk factors for ARMD.
SYSTEMIC: (1) Smoking (2) HTN (3) Increased BMI (4) Cardiovascular disease (5) Dyslipidemia
DEMOGRAPHIC: (1) Increasing age (2) Caucasian (3) Family history/genetic
Give 4 features that may indicate the presence of a subretinal CNVM.
(1) Subretinal fluid (2) Subretinal haemorrhage (3) Grey-coloured subretinal membrane (4) PED (5) Sub-retinal lipid deposits
What are the 4 characteristic clinical features of Coats disease?
(1) Retinal telangiectasia (2) Intraretinal and subretinal exudates (3) Exudative detachment
(4) Male > female (5) Usually presents in 1st decade of life (6) Unilateral (7) Progressive (8) Leukocoria
Give 3 features which correlated with poor prognosis in the CVOS study.
(1) Initial visual acuity <6/60 (2) Amount of non-perfusion on FFA (3) Moderate to severe venous tortuosity
List the three most important ways of measuring the response of AMD subretinal neovascularisation to treatment.
(1) Visual acuity (2) OCT thickness (3) Presence or absence of subretinal haemorrhage?
Give 2 treatments for gyrate atrophy.
(1) Vitamin B6 (300mg/day oral) reduces serum ornithine levels in a small proportion of patients (2) Dietary arginine restriction with low protein diet
List 2 vitreous changes associated with retinitis pigmentosa.
(1) Mild vitritis (2) PVD
What is the risk of development of FTMH in the other eye in idiopathic macular hole?
10 - 15% 5 year risk (much lower if already has PVD)
What laser settings would you use for a macular grid?
(1) 50 - 100 μm spot size (2) 0.05 - 0.1s duration (3) Start at 60mW for very mild blanching (4) Space 1 burn-width apart (5) Apply 20 - 100 burns
How close to the centre of the fovea can you laser according to macular photocoagulation study?
300 μm
200 μm for MPS retreatment study.
In CVOS what percentage of perfused CRVO went on to become non-perfused in 3 yrs?
34% (conversion most rapid in first 4 months)
Define severe NPDR.
4 quadrants of retinal haemorrhage, or 2 quadrants of venous beading, or 1 quadrant of IRMA.
What characteristics were identified in the ETDRS as high risk for the development of proliferative retinopathy?
4 quadrants of retinal haemorrhage, or 2 quadrants of venous beading, or 1 quadrant of IRMA.
CASE: 64 year old woman with unilateral superior-temporal BRVO, now 3/12 after onset. What would be the indication for laser treatment?
VA of < 6/12 which is due to macular edema (FFA should show no macular non-perfusion) AND be within 3-18 months post BRVO onset
CASE: 75 year old man with subretinal CNVM due to ARMD. What is the risk of developing CNV in the fellow eye?
7 - 10% per year
What is the degree of stenosis which would require carotid endarterectomy surgery?
If symptomatic (eg. TIA or minor strokes), stenosis > 60% If asymptomatic, stenosis > 70%
What is Purtscher’s retinopathy?
SIGNS: Visual loss (VA or VF) and fundus appearance of microvascular angiopathy with multiple areas of retinal whitening (Purtscher’s flecken), CWS and minimal pre-retinal/retinal haemorrhages mainly at posterior pole. Should have no visible emboli. Unilateral or bilateral.
CAUSE: Head trauma (but without direct ocular injury), crush injury, orthopaedic surgery, long bone fracture or acute pancreatitis.
Give 2 ocular manifestations of hepatitis C virus infection that are best supported by the literature.
(1) Xerophthalmia (dry eye syndrome similar to Sjögren)
2) Ischaemic retinopathy caused by HCV vasculitis (or due to interferon treatment
What gene causes Stargardt’s disease?
Typically: ABCA4 (autosomal recessive) - ATP binding cassette transporter - transport molecules including retinoid across cellular membranes in photoreceptors
Describe the acute and chronic fundus changes seen in malignant hypertension.
ACUTE: retinal arteriolar spasm, superficial retinal haemorrhages, retinal oedema, CWS, serous retinal detachment, disc swelling, Elschnig spots
CHRONIC: AV nipping, copper or silver wiring, broadening of arteriolar reflex, generalised arteriolar narrowing
What information gives the most accurate prediction of the progression of RP?
Later age of onset which correlates with autosomal dominant form has better prognosis (compared to X-linked)
List 4 ocular manifestations of hypertension (not including the changes in the vessels such as copper wiring and A/V nipping).
(1) CWS (2) Hard exudates (3) retinal haemorrhages (4) Elschnig spots (5) Disc swelling
Give 2 classes of drugs causing pigmentary retinopathy
(1) Quinoline antimalarials (eg. chloroquine)
(2) Phenothiazine antipsychotics (eg. thioridazine)
(3) Iron chelators (eg. deferoxamine)
(1) Describe the retinal lesions in Familial Adenomatous Polyposis. (2) What is its inheritance?
(1) Atypical CHRPE: multiple, bilateral, widely separated, oval or spindle-shaped with hypo-pigmentation. Bilateral lesions and lesions with a depigmented halo were the hallmarks of CHRPE associated with FAP. (2) AD
What is the inheritance of Bests disease.
AD (but variable penetrance and expression)
A young male patient is slightly obese, has a small appendage at the base of his little finger, and complains of difficulty with night vision. What is the most likely diagnosis?
Bardet-Biedl syndrome (rod-cone dystrophy)
What role does vitamin A supplementation play in your management of a patient with retinitis pigmentosa?
Indication: Typical RP
Study: RCT 1990s
Dose: 15,000 IU Vitamin A palmitate
Benefit: Slow decline in ERG by 20%/year if started before age 30 (i.e. modest benefit only)
SE: Liver toxic, teratogenic! (C/I in pregnancy)
What is tritanopia?
Deficiency in BLUE (short) wavelength sensitivity cones. Very rare 1:13,000. Difficulty with blue-yellow.
