Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Ophthalmology > Systemic disease and the eye > Flashcards

Systemic disease and the eye Flashcards

1
Q

What is myotonic dystrophy?

A

Group of inherited conditions that show muscle weakness and myotonia (inability to relax after muscle contraction)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are the 2 main types of myotonic dystrophy?

A

Classic dystrophia myotonica 1 (DM1)
Type 2 myotonic dystrophy (DM2)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What mutation causes classic dystrophia myotonica 1 (DM1)?

A

AD mutation in dystrophia myotonica protein kinase gene DMPK

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is type 2 myotonic dystrophy?

A

A milder version caused by a different mutation (abnormally expanded section in ZNF9 gene)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

How does myotonic dystrophy present?

A
  • Muscle wasting and weakness
  • Mournful facial expression (facial wasting, loose jaw)
  • Slurred speech (tongue/pharyngeal muscles involved)
  • Frontal baldness in males
  • In OSCE, would shake patients hand to show difficulty in releasing grip
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are some common ocular manifestations of myotonic dystrophy?

A
  • Early onset cataract
    • Pathognomonic: stellate posterior cortical catact
    • Also ‘Christmas Tree’ (polychromatic) cataract (can also be age-related finding)
  • Ptosis
  • Hypermetrophia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is shown?

A

Stellate posterior cortical cataract

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is shown?

A

Christmas tree (Polychromatic) cataract

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are some uncommon ocular manifestations of myotonic dystrophy?

A
  • Mild opthalmoplegia
  • Pupillary light-near dissociation
  • Pigmentary retinopathy
  • Optic atrophy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are the 2 main ocular features of neurofibromatosis?

A

Optic glioma
≥ 2 Lisch nodules

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is optic glioma?

A
  • Slow growing tumour of the optic nerve which causes fusiform enlargement, resulting in globe proptosis and an afferent pupillary defect
  • Optic nerve may be swollen (or atrophic later)
  • 30% have associated NF1
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is shown?

A

Optic glioma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What are Lisch nodules?

A
  • Bilateral yellow or brown dome-shaped nodules
  • Develop during 2nd-3rd decades, eventually present in 95% of cases
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is shown?

A

Lisch nodules

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are some non-ocular features of neurofibromatosis type 1?

A
  • ≳6 cafe-au-lait macules
  • ≳2 neurofibromas of any type, or one plexiform neurofibroma
  • Axillary or inguinal freckling
  • Distinctive osseous lesion e.g. sphenoid dysplasia or thinning of long bone cortex, with or without pseudoarthrosis
  • First degree relative with NF1
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is thyroid eye disease?

A

Autoimmune disease caused by the activation of orbital fibroblasts by autoantibodies directed against thyroid receptors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What are some conditions that can cause thyroid eye disease?

A

Grave’s disease (90%)
Hypothyroidism (10%)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Describe the pathophysiology of thyroid eye disease

A
  1. Orbital fibroblasts activated by Graves’ disease-related autoantibodies, leading to an inflammatory response
  2. This results in enlargement of extra-ocular muscles, fatty and connective tissue volume
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What are the 5 stages of thyroid eye disease?

A
  1. Soft tissue involvement
  2. Lid retraction
  3. Proptosis
  4. Optic neuropathy
  5. Restrictive myopathy (inflammation and fibrosis)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What are some symptoms of soft tissue involvement in thyroid eye disease?

A

Grittiness
Photophobia
Lacrimation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What are some signs of soft tissue involvement in thyroid eye disease?

A

Hyperaemia
Chemosis
Periorbital swelling

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is a possible complication of proptosis?

A

Could lead to exposure keratopathy → corneal ulceration

21
Q

What is shown?

A

Thyroid eye disease

22
Q

What are some management options in thyroid eye disease?

A
  • Thyroid dysfunction control
  • Stop smoking
  • Selenium supplementation
  • Lubricants
  • Systemic steroids
  • Radiotherapy
  • Monoclonal antibody treatment
  • Surgical decompression
  • Eye muscle surgery
  • Lid surgery
23
Q

What is dermatomyositis?

A

Autoimmune condition that causes skin changes and muscle weakness

24
Q

What are some causes of dermatomyositis?

A
  • Systemic autoimmune
  • Paraneoplastic phenomenon
  • Drugs e.g. hydroyurea
25
Q

What are some ocular features of dermatomyositis?

A
  • Heliotrope rash on eyelids
  • Systemic autoimmune disease - look for dry eyes, scleritis etc.
26
Q

What is shown?

A

Dermatomyositis

27
Q

What are some other features of dermatomyositis?

A
  • Proximal muscle weakness
  • Gottron’s papules on small joints of hands
28
Q

What is Marfan syndrome?

A

Genetic connective tissue disorder

29
Q

What causes Marfan syndrome?

A

Autosomal dominant mutation of the fibrillin-1 gene (FBN1)

30
Q

What is an ocular feature of Marfan syndrome?

A

Disocated lens (ectopia lentis)

  • Can be in any meridial, classically superotemporal
  • Zonules still intact
31
Q

What is shown?

A

Disocated lens (ectopia lentis)

32
Q

What are some other features of Marfan syndrome?

A
  • Tall, thin stature
  • Disproportionately long limbs compared with trunk
  • Arachnoidactoly
  • Narrow high-arched (‘gothic’) palate
  • Pectus excavatum
  • Dilated aortic root
33
Q

What is shown?

A

Gothic palate

34
Q

What is shown?

A

Pectus excavatum

35
Q

What are some signs of Marfan syndrome?

A

Wrist sign
Thumb sign

36
Q

What are some ocular features of rheumatoid arthritis?

A
37
Q

What are some ocular features of Sjögren’s syndrome?

A
  • Dry eyes - gritty feeling
  • Punctate epithelial erosions seen using fluorescein
38
Q

What is shown?

A

‘Mutton-fat’ keratic precipitates - granulomatous anterior uveitis

39
Q

What are some causes of granulomatous anterior uveitis (Mutton-fat keratin precipitates)?

A
  • Sarcoidosis
  • TB
  • Syphilis
40
Q

What is shown?

A

Posterior synechiae

41
Q

What are some causes of posterior synechiae?

A
  • HLA B27 anterior uveitis
  • Idiopathic anterior uveitis
42
Q

What is shown?

A

Posterior uveitis

43
Q

What are some causes of posterior uveitis?

A
  • Retinitis
  • Vasculitis
  • Optic neuritis
44
Q

What is shown?

A

Vortex keratopathy

45
Q

What are some drugs that can cause vortex keratopathy?

A
  • Amiodarone
  • Hydroxychloroquine
  • Chlorpromazine
  • Also caused by Fabry disease
46
Q

What is shown?

A

Bull’s eye maculopathy

47
Q

What are some drugs that can cause bull’s eye maculopathy?

A
  • Hydroxychloroquine
  • Chloroquine
48
Q

What is shown?

A

Symblepharon

49
Q

What are some causes of symblepharon?

A
  • Stevens-Johnson (E.g. penicillins, sulfa drugs)
  • Also caused by ocular cicatrical pemphigoid and chemical injury
50
Q

What are some eye side effects of steroids?

A
  • Rise in intra-ocular pressure (May be asymmetrical)
  • Related to potency
  • More marked in children or glaucoma patients
51
Q

What are some infective causes of inflammatory eye disease?

A
  • TB
  • Herpetic (E.g. zoster, simplex)
  • CMV
  • Toxoplasmosis
  • Syphilis
  • Lyme disease
52
Q

What are some non-infective causes of inflammatory eye disease?

A
  • Idiopathic syndromes
  • HLA-B27
  • Juvenile arthritis
  • Sarcoidosis
  • Behcet’s disease

Ophthalmology (9 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions