Answers on Medical Retina
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1.    a.F   b.T    c.T    d.T    e.T
 
 

Familial exudative vitreoretinopathy
 
• FEVR is normally an autosomal dominantly inherited disease but X-linked inheritance has been described.
• although both eyes are affected, the degree of involvement

may be very asymmetrical.
• the fundus appearances may be confused with retinopathy of prematurity (ROP)
• it is characterized by peripheral areas of avascularity in the peripheral retina, almost indistinguishable from ROP. The lack of history of premature birth, low birth weight, or oxygen therapy differentiates this condition from retinopathy of prematurity.
• dragging of the retina temporally with vessel straightening, subretinal exudation, cicatrization and retinal detachment are all features of this condition. Complications include neovascularisation in the peripheral retina.
• treatment with cryotherapy to neovascular areas, and scleral buckling and vitrectomy procedures for tractional detachments have all been used in the treatment.
• relentless progression is uncommon. Visual impairment tends to occur early and it is rare to lose vision after the age of 30 unless the patient develops tractional retinal detachment.

 

 
 
 
 
 
 
 
 
 

2.    a.T    b.F    c.F    d.F    e.F
 
 

Acute zonal occult outer retinopathy (AZOOR):
 
• an idiopathic conditions which may be precipitated by punctate inner choroiodapthy (PIC), multifocal choroiditis (MIC) or multiple evasnescent white dot syndrome (MEWDS)

• it is characterized by a rapid loss of visual field which

cannot be explained by the ophthalmoscopic changes
 
• majority of the sufferers are healthy young white myopic females.

• initial presentation is with photopsia and increased blind spot in the presence of normal visual acuity. Later, the visual field is decreased with decreased visual acuity.

• fluorescein angiography is not helpful as it is normal or might only show the precipitation condition initially.

• In electrophysiology, the electro-oculogram (EOG) light rise is often reduced and the ERG is usually very abnormal.

• there is no effective treatment. In some patients, the vision returns spontaneously.

 
 

3.    a.T    b.F    c.F    d.F    e.F
 
 

Punctate idiopathic choriodopathy (PIC)
 
• is commoner in myopic women in their 30s and 40s.

patients presents with blurred vision, paracentral scotoma and photopsia.
 
• the condition is bilateral in the majority of the patients

 
• the acute lesions are small yellow lesions with slightly fuzzy borders. there are no cells or other signs of inflammation in the vitreous or anterior chamber.

• the lesions gradually evolve into well defined scars and

slowly become more pigmented.
 
• viral prodrome is not associated with PIC

the visual prognosis of eyes with that do not develop subfoveal CNV is very good.
 
4.    a.F    b.T    c.T    d.T    e.T
 
 
Idiopathic polypoidal choroidal vasculopathy (IPCV)

• is also known as posterior uveal bleeding syndrome and multiple recurrent serosanguineous REP detachment syndrome.

• although originally described in black hypertensive females in middle age. It is now been recognized in other races.

• the characteristic lesion appears to be an inner choroidal vascular network of vessels ending in an aneurysmal bulge or outward projection.

• recurrent and multiple REP detachments with or without the associated subretinal bleeding (posterior uveal bleeding syndrome) may then occur.

• the absence of drusen, retinal vascular disease and intraocular inflammation is characteristic of the condition. Vitreous haemorrhage may also occur.

 
• the lesions were originally described to be peripapillary in location, but pure macular lesions have also been reported.

indocyanine green angiography is most helpful in identifying polyps.
 
• it has a better prognosis than other causes of haemorrhagic detachments of the retina. Direct laser therapy to the

lesion appears to carry a better prognosis in IPCV compared to laser therapy of CNV in AMD patients.

 

5.    a.T    b.F    c.T    d.T    e.T
 

 
Stickler's syndrome:
 
• autosomal disorders

 
• associated with abnormal production of type II collagen

 
• ocular features include myopia, cataracts, strabismus, and optically-empty vitreous vitreous traction and lattice degeneration

• multiple retinal breaks occurs in more than 75% of the patients.

systemic manifestation include maxillary and mandibular hypoplasia, cleft palate, abnormal uvula, neurosensory hearing loss and skeletal abnormalities with joint hyperextensibility, and marfanoid habitus
6.    a.F    b.F    c.F    d.T    e.T
 
 
Difference between ARN and PORN:
• both conditions are associated with herpes virus chiefly herpes simplex and zoster
• both conditions can lead to retinal detachment
• ARN is seen both in healthy and immunocompromised patients whereas PORN is seen exclusively in AIDS or immunocompromised patients
• vitritis is often severe in ARN but is usually minimal or absent in PORN

ARN responds to intravenous acyclovir but PORN responds poorly and PORN patients usually have poorer eventual visual outcome
 
7.    a.F    b.T    c.F    d.T    e.F
 

Vigabatrin:

 
• indicated only when all other appropriate antiepileptic drug combinations have proved ineffective or poorly tolerated
• is an GABA transaminase inhibitor
• indicated as first line therapy only in infantile spasm
• about 1/3 of epilepsy patients using it have characteristic visual field defects which can vary from asymptomatic to severe and disabling
• the defect is not reversible even with cessation of the therapy
• the cause of the visual field loss is unknown

not recommended in patients with pre-existing visual field defects

 
 
 

8.    a.F    b.T    c.F    d.T    e.F

 

   Oguchi disease:
 

• is a form of congenital stationary night blindness
• is characterized by a golden/grey-white discoloration of the retina giving a metallic sheen to the back of the eye. This disappeared when the fundus was viewed after some time in the dark and has become known as the Mizuo-Nakamura phenomenon.
• visual acuity, colour vision and visual fields are usually normal in Oguchi disease.
• two genes involved in Oguchi disease have been identified

and include: arrestin, a gene located in the region of the distal arm of chromosome 2q, and rhodopsin kinase. The arrestin mutations are more common in Japanese Oguchi disease, and rhodopsin kinase in European Oguchi disease.
 
• patients are asymptomatic in light, but are night blind.
• dark adaptation shows extremely retarded rod function.

 

9.    a.T    b.F    c.T    d.F   e.F

 
Retinal crystals are seen in:
 

• drug-induced:
tamoxifen
canthaxanthin
talc
methoxyflurane

• metabolic disorders
cysintonosis
primary oxalosis type 1

• others

Bietti retinal dystrophy
Sjorgren-Larsson syndrome

 

10.    a.F    b.T    c.T    d.F    e.F
 
 
Shaken baby syndrome:
 
• typically occurs in children less than 3 years of age and results from violent shaking
• there is no external eye injury but the posterior segment shows retinal haemorrhages (both intra and subretinal) and vitreous haemorrhage
• skull fracture is uncommon but CT scan reveals subarachnoid or intracerebral haemorrhages
• vomiting, lethargy and focal neurologic findings are common
the visual prognosis is poor due to macular scarring, vitreous haemorrhage and retinal detachment

 
 
 

11.    a.F    b.F    c.F    d.T    e.T

In central retinal artery occlusion and ophthalmic artery occlusion:
 

• both give cherry-red spot in the acute phase

• both causes relative afferent pupillary defect

• in ophthalmic artery occlusion, the a and b waves on the ERG are abnormal due to insult to the outer and inner retina

• in ophthalmic artery occlusion, both the choroidal and retinal circulation are delayed

• in ophthalmic artery occlusion, the REP is disturbed resulting in pigmentary changes at a later date

 

12.    a.F    b.F    c.T    d.T    e.T

Cystoid macular oedema without fluorescein leakage occurs in:
 

• some cases of retinitis pigmentosa

• X-linked juvenile retinoschisis

• Goldman-Favre syndrome

 
• nicotinic acid maculopathy


 
 

13.    a.F    b.T    c.F    d.F    e.T

Rhegmatogenous retinal detachment is associated with:
 

• posterior vitreous detachment
• lattice degeneration
• cystic retinal tuft
• meridonal folds
• white without pressure

 

14.    a.T    b.F    c.T    d.F    e.F

Acute macular neuroretinopathy:
 

• an uncommon condition which causes paracentral scotoma in young adult

• fundoscopy reveals dark lesion in the macula which is typically triangular in shape

• otherwise the fundus is normal

• the lesion is confined to the macula and therefore the ERG is normal

• the visual loss is mild and spontaneous recovery is common


 

15.    a.T    b.T    c.T    d.T    e.T

 
von Hippel-Lindau's syndrome:

is an autosomal dominant condition with variable penetrance

50% of the patients has angiomatosis retinae which may be found in the optic disc or the periphery

those in the optic disc or juxtapapillary may mimic choroidal neovascularization

the angioma enlarges slowly leading to visual loss mainly through exudative maculopathy and also vitreous haemorrhage, tractional retinal detachment or epiretinal membrane

16.    a.F    b.T    c.T    d.F    e.F

Stargardt's disease:
 

is usually inherited in an autosomal recessive inheritance

it is regarded as a type of fundus flavimaculatus

lipofuscin substance is found within the REP cells which give rise to dark choroid during fluorescein angiography

colour vision defect along the red-green axis is common

in late stage the macula can assume bull's eye maculopathy


most patients become symptomatic within the first or second decade of life
 

 

17.    a.F    b.T    c.F    d.F    e.T
 

Wyburn-Mason's syndrome:
 

• a type of phakomatoses

• sporadic condition

• characterized by arteriovenous communications of the retina and brain beginning in adolescence

• the arteriovenous communications of the retina gives rise to racemose aneurysm of the retina

• unlike von Hippel Lindau syndrome, exudative maculopathy is uncommon instead the visual loss is due to the loss of capillary bed or overlying of the vessels over the macula

• tram-line calcification seen in skull X-ray is characteristic of Sturge-Weber's syndrome

• visual field defect is seen in one-third of the patient due to the vascular abnormalities

18.    a.F    b.F    c.T    d.T    e.T

 
Electrophysiology:
 

• EOG is useful in detecting Best's disease but is normal in adult onset foveomacular dystrophy

• electroretinogram is abnormal in carrier of X-linked retinitis pigmentosa and is diagnostic in Leber's congenital amaurosis

• in Stargardt's disease, the ERG is variable and is therefore not useful for diagnosis

• carrier of choroideremia has normal ERG despite changes in the peripheral retina

19.    a.F    b.T    c.T    d.T    e.T
 

Bietti's crystalline dystrophy:
 

• it is an autosomal recessive disorders

• is characterized by crystalline deposits in all layers of the retina, cornea and also in the lymphocytes

• the crystals are made up of cholesterol and lipid

• REP and choroidal atrophy are common features

• patients present with night blindness and progressive visual loss

• ERG and EOG are abnormal

20.    a.T    b.T    c.T    d.F    e.F
 

Mucopolysaccharidosis associated with pigmentary retinopathy include:

• Type I-H (Hurler)
• Type I-S (Scheie)
• Type II (Hunter)
• Type III (Sanfilippo's)
• Type IV  (Morquio's)


Type VI (Maroteaux-Lamy's syndrome) and type VII (Sly's syndrome) are not associated with pigmentary retinopathy
 
 


21.    a.T    b.T    c.F    d.T    e.F
 

Optically empty vitreous (due to vitreous liquefaction) and peripheral retinal pigmentary changes occur in:
 

• Stickler's syndrome

• Jansen's disease

• Wagner's disease

• Goldmann-Favre disease


22.    a.T    b.F    c.T    d.T    e.T
 

Jansen's disease and Wagner's disease:
 

• both conditions are autosomal dominant

• high myopia, cataract and glaucoma are common in both conditions

• the ERG are abnormal in both conditions

• the EOG are normal in both conditions

• the main distinguishing feature is the increased risk of retinal detachment in Jansen's disease which is not seen in Wagner's disease

23.    a.T    b.T    c.T    d.T    e.F
 

Macroaneurysms:
 

• are more common in women than men

• found mainly along the temporal arcade

• causes retinal artery occlusion, retinal haemorrhages and vitreous haemorrhages

• symptomatic only if it bleeds or causes exudative maculopathy, spontaneous closure is common due to thrombosis

• IRVAN syndrome is made up of Idiopathic Retinal Vasculitis, Aneurysms and Neuroretinitis. It is characterized by bilateral multiple bilateral macroaneurysms

24.    a.T    b.T    c.F    d.T    e.F
 

Carcinoma associated retinopathy (CAR):
 

• is a paraneoplastic syndrome

• colour vision defect, night blindness and rapid visual loss are typical presentation

• the condition may present before the diagnosis of the primary tumour which is typically oat cell carcinoma of the lung

• autoantibodies are commonly seen in the blood

• both rod and cone ERG are abnormal

there is no effective treatment

25.    a.T    c.T    c.T    d.T    e.T
 

Deafness and pigmentary retinopathy are seen in the following conditions:
 

• Congenital syphilis

• Congenital rubella

• Usher's syndrome

• Cockaryne's syndrome

• Alstroms syndrome

• Leber's amaurosis

• Alport's syndrome

• Hunter's syndrome (MP II)

• San Fillipo's disease (MP III)


26.    a.T    b.T    c.T    d.T    e.T
 

Norrie's disease:
 

• a rare X-linked disorders

• bilateral blindness with abnormal retina development

• rosette formation is common in retina histology

• 1/3 has hearing abnormality

• retrolental masses are common which may be mistaken for retinoblastoma


27.    a.F    b.T    c.F    d.T    e.F
 

X-linked retinoschisis:
 

• splitting of the retina occurs at the nerve fibre layer

• electrophysiology reveals negative ERG with normal a wave but reduced b wave

• the main cause of visual loss is central macular abnormalities

• other causes of visual loss include retinal detachment and vitreous haemorrhage

• hypermetropia is an association

• DNA analysis is useful in detecting the carrier, the abnormal gene is located at XLRS1gene on the short arm of the X-chromosome

28.    a.F    b.T    c.F    d.T    e.F
 
 

Significant macular oedema as defined by ETDRS are:
 

• retinal thickening within 500 microns of the centre of the fovea

• hard exudate within 500 microns  of the centre of the fovea with adjacent retinal thickening

• one disc area of retinal thickening, any part of which is within 1 disc diameter of the centre of the fovea


 

29.    a.F    b.F    c.F    d.F    e.F
 

Branch Retinal Vein Occlusion Study:
 

• no treatment for macular oedema for at least 3 months

• fluorescein angiography is not useful at the time of presentation due to retinal haemorrhages, it is only useful when the haemorrhages clear

• laser treatment is useful in patients with vision of 6/12 or less and without evidence of macular ischaemia on fluorescein angiography

• although sectorial panphotocoagulation is useful in reducing the risk of vitreous haemorrhage in those patients who have more than 5 disc diameter of ischaemia, the recommendation is for the PRP to be performed only in the presence of neovascularization and not based on ischaemia of more than 5 disc diameter as the majority of the eyes do not develop neovascularization

30.    a.F    b.T    c.T    d.T    e.F
 

Findings of the Diabetes Control and Complications Trial are:

• intensive insulin treatment resulted in a statistically significant reduction in incidence and progression of DR and the need for macular laser panphotocoagulation or PRP

• these only apply to insulin dependent diabetic

• initial worsening during the first year was noted in some eyes, but after 3 years there was a beneficial effect on progression of DR

severe hypoglycaemia was more common in the tight control group

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