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Medical Retina > Retinal dystrophies and Inflammatory eye disease > Flashcards

Retinal dystrophies and Inflammatory eye disease Flashcards

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USMLE® Step 1 flashcards
1
Q

list 5 common retinal dystrophies

A

Retinitis Pigmentosa
Cone dystrophy
Stargardt’s disease and fundus flavimaculatus
Best Disease
Autosomal dominant drusen

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2
Q

what is retinitis pigmentosa and what symptom do pxs present with

A

Inherited degeneration of the rod system of the retina

Patients present with night blindness and loss of peripheral vision

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3
Q

which types of RP patients have a more severe form of the disease

A

Autosomal recessive and X-linked

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4
Q

list 3 main fundal changes consistent with RP

A

‘bone speculated ‘ pigmented lesions at the location of the mid equator

Attenuated arterioles

Waxy disc pallor

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5
Q

what does the pigmented areas of RP represent

A

photoreceptor loss

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6
Q

which types of investigative tests will be carried out for RP

name 2

A

visual fields and Electrodiagnostic testing

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7
Q

name 6 other ocular manifestations associated with RP

A

Keratoconus
Glaucoma
Cataract - at an earlier age
Posterior vitreous detachment
ERM
Cystoid macular oedema

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8
Q

list 5 systemic manifestations of RP

A

Ushers – deafness

Kern –Sayes – ptosis, heart conduction problems, Chronic progressive external ophthalmoplegia

Laurence –Moon – mental retardation

Bardet – Biele – Obesity, polydactyly

Refsums – Heart problem, polyneuropathy

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9
Q

list 6 ways to manage a person with RP

A

Treat and correct ocular manifestations i.e. cataract surgery, macular oedema

Monitor progression – annual field tests

Genetic counselling – probability of further offspring being affected

Support networks / groups – increase awareness of condition

Involvement of trials and biobanks – increase research for the condition

Visual rehabilitation – low visual aids, sight impairment registration

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10
Q

as well as the cone system in Progressive Cone Dystrophy, what else may also be affected

what 2 ways can Progressive Cone Dystrophy obtained

A

Rods may also be affected

Either inherited or sporadic

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11
Q

what will confirm the diagnosis of Progressive Cone Dystrophy

A

EDTs

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12
Q

what will be the first symptom of a px with Progressive Cone Dystrophy and why

what 2 things are seen as the condition progresses

A

Patients macular function is affected and hence reading may be first to be affected

As the condition progresses geographic atrophy and a bulls eye maculopathy occurs

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13
Q

what is the most common hereditary dystrophy affecting the central retina

A

Stargardt’s disease
with or without fundus flavimaculatus

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14
Q

which type of inheritance is Stargardt’s disease and when in life does it usually present

A

Autosomal recessive condition

Presents at childhood (aged about 6 years) to early adulthood: bilateral (usually) decreased central vision

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15
Q

what is the prognosis of stargart’s disease and why

A

generally poor

Most patients experience rapid deterioration of vision during the first two decades of life. Once vision drops below 6/12, progression is rapid and the visual prognosis is poor

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16
Q

name 2 fundal features of Stargardt’s disease

A

Macular has a characteristic ‘slimy snail track’ appearance

with surrounding atrophic piscifom lesions which represent the fundus flavimaculatus

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17
Q

what features is Bests disease characterised by

A

an abnormal accumulation of lipofuscin at the level of the RPE.

This grows over years, eventually to give rise to a characteristic round egg-yolk appearance and which may be later associated with a pseudo-hypopyon.

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18
Q

which type of inheritance is Bests disease

A

Autosomal dominant

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19
Q

with Bests disease, what do changes occur in before symptomatic

what may declining visual acuity be a reflection of

A

Changes occur in EOG readings in children before they are symptomatic
Vision may be only slightly decreased in childhood and teenage years when the ‘egg-yolk lesion’ is present

Declining visual acuity may be a reflection of macular scarring

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20
Q

what is Autosomal dominant drusen and what are these patients at high risk of developing

A

Presence of drusen in patients under 50 years of age

High risk of developing wet macular degeneration at a young age

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21
Q

name 3 subtypes of Autosomal dominant drusen

A

Doyne’s honeycomb choroiditis
malattia leventinese
North Carolina macular dystrophy

Are predisposed to getting wet AMD

22
Q

what do patients with Inflammatory Eye Disease present with and at what time of life

A

They present with either anterior, intermediate, posterior uveitis

generally young to middle aged

23
Q

list 5 symptoms of Inflammatory Eye Disease

A

red eye
photophobia
floaters
blurry vision
visual loss depending on what compartment of the eye is affected

24
Q

list 5 signs to look out for in Inflammatory Eye Disease

A

KPs

cells in the anterior chamber and vitreous

iris nodules

fundal examination may include
- vasculitis
- macular oedema

25
Q

as well as an ocular investigation, what else should be investigated in Inflammatory Eye Disease and why

A

A systemic work up is required

which includes specialised blood tests and radiological investigations. This is to rule out any infective causes for the inflammation

26
Q

list 4 causes of Inflammatory eye condition

A

Sarcoidosis
Behcets disease
Birdshot
AMPPE

27
Q

what ocular sign is seen with Sarcoidosis

A

Granulomatous inflammation (mutton fat KPs in anterior segments) which can affect anterior and posterior segments and bilaterally

28
Q

what does a CT scan of the chest show with sarcoidosis and what is needed to prove a diagnosis

A

Raised Serum ACE and CXR – hilar lymphoadenopahthy (enlarged lymph nodes)

Biopsy may prove diagnosis

29
Q

what is the treatment for sarcoidosis and why

A

Treatment is steroids - to dampen down the immune system as their own cells attack itself

30
Q

name 4 body parts that are affected by sarcoidosis

A

brain, chest, joints, skin

31
Q

what is Behcets disease and who does it predominantly affect

A

Idiopathic condition usually affects males from the Silk Route regions e.g. mediterranean, turkey, japan

32
Q

what anterior ocular sign is seen and what 3 posterior signs are seen with Behcets disease

A

Bilateral anterior uveitis characterised by mobile hypyon

Posterior signs include – vitritis, retinal vasculitis and retinitis

33
Q

what 2 types os systemic signs of Behcets disease are there

A

oral and genital ulcers
skin rashes

34
Q

what is the treatment for Behcets disease

A

high dose immunosuppression

35
Q

what type of patients have Birdshot choroiditis

A

middle aged usually females

36
Q

list 4 symptoms of birdshot choroiditis

A

floaters
blurry vision
night blindness
and
vibratory vision

it is purely an ocular condition

37
Q

list the 3 signs of birdshot choroiditis

A

Posterior and intermediate uveitis
macular oedema
Characteristic white lesion radiating from the disc inferiorly nasally at the level of the choroid

38
Q

what is the diagnostic test and outcome of birdshot choroiditis

A

Blood test – HLA A29 is positive

39
Q

what is the treatment of birdshot choroiditis

A

high dose immunosuppression

40
Q

what is the management of birdshot choroiditis

A

electrodiagnostic tests & annual visual fields test

41
Q

what type of patients have Acute Multifocal Pigment Placoid Epitheliopathy

A

Young patients who have a viral illness before they have eye symptoms

42
Q

what 2 ocular symptoms do people with Acute Multifocal Pigment Placoid Epitheliopathy have

A

Usually bilateral and

develop floaters and scotoma (from the lesions they develop)

43
Q

what 3 systemic manifestations do patients with Acute Multifocal Pigment Placoid Epitheliopathy develop

A

GI
joint
neurological

manifestations

44
Q

what part of the eye does Acute Multifocal Pigment Placoid Epitheliopathy affect and what characteristic does it have

A

the choriocapillaris of the choroid

and has characteristic FFA changes

45
Q

what is the treatment for Acute Multifocal Pigment Placoid Epitheliopathy

A

condition is thought to be self limiting – however steroids are indicated if lesions affect the macular

46
Q

what condition is this

A

Progressive Cone Dystrophy

47
Q

what condition is this

A

Stargardt’s disease and fundus flavimaculatus

48
Q

what condition is this

A

Best disease

49
Q

what condition is this

A

Autosomal dominant drusen

50
Q

what condition is this

A

Birdshot choroiditis

51
Q

what condition is this

A

Acute Multifocal Pigment Placoid Epitheliopathy

Medical Retina (17 decks)

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