Disease Profiles: Eye + Systemic Disease

Question 1

What causes thyroid eye disease?

Answer 1

90% of cases associated with Graves disease - thyroid receptor antibodies present in orbital tissue

Question 2

What is diabetic macular oedema?

Answer 2

Characterised by oedematous changes in or around the macula

Question 3

Name two ocular features associated with Neurofibromatosis Type 1

Answer 3

Optic glioma, Lisch nodules

Question 4

How do steroids increase incidence of cataracts?

Answer 4

Steroids cause a rise in intra-ocular pressure

Question 5

Name 3 diseases associated with posterior uveitis

Answer 5

Retinitis, vasculitis, optic neuritis

Question 6

Define Marfan syndrome

Answer 6

Genetic connective tissue disorder

Question 7

Define myotonic dystophy

Answer 7

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

Question 8

Name 3 cutaneous features of Neurofibromatosis Type 1

Answer 8

≳6 cafe-au-lait macules

2≳ neurofibromas of any type, or one plexiform neurofibroma

Axillary or inguinal freckling

Question 9

What type of drug can cause symblepharon?

Answer 9

Drugs that cause Stevens-Johnson syndrome - sulfa drugs, penicillins etc.

Question 10

What causes Marfan syndrome?

Answer 10

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

Question 11

Name two ocular features of Sjorgren’s syndrome

Answer 11

Dry eyes - gritty feeling

Punctate epithelial erosions seen using fluorescein

Question 12

Name 3 causes of dermotomyositis

Answer 12

Systemic autoimmune

Paraneoplastic phenomenon

Drugs e.g. hydroyurea

Question 13

Name the most common cause of unilateral and bilateral proptosis

Answer 13

Thyroid eye disease

Question 14

Define Neurofibromatosis Type 1

Answer 14

Genetic condition (NF1 gene mutation) that causes tumours along the nervous system

Question 15

Name two ocular features of rheumatoid arthritis

Answer 15

Question 16

Describe the stages of thyroid eye disease

Answer 16

1. Soft tissue involvement
2. Lid retraction
3. Proptosis
4. Optic neuropathy
5. Restrictive myopathy

Question 17

Describe the features on fundoscopy associated with proliferative diabetic retinopathy

Answer 17

Neovascularisation

Vitreous haemorrhage and traction

Question 18

Describe the features on fundoscopy associated with non-proliferative diabetic retinopathy

Answer 18

Question 19

Name 3 common ocular manifestations of myotonic dystophy

Answer 19

Early onset cataract, ptosis, hypermetrophia

Question 20

What is optic glioma?

Answer 20

Slow growing tumour of the optic nerve which causes fusiform enlargement, resulting in globe proptosis and an afferent pupillary defect 30% have associated NF1

Question 21

When might a vitrectomy be indicated in diabetic eye disease?

Answer 21

May be necessary for vitreous haemorrhage or retinal detachment

Used in patients with diabetic macular oedema with clinical or OCT signs of traction

Question 22

Name 2 ocular features of dermotomyositis

Answer 22

Heliotrope rash on eyelids

Systemic autoimmune disease - look for dry eyes, scleritis etc.

Question 23

Name 4 uncommon ocular manifestations of myotonic dystophy

Answer 23

Mild opthalmoplegia

Pupillary light-near dissociation

Pigmentary retinopathy

Optic atrophy

Question 24

What is thyroid eye disease?

Answer 24

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

Characterized by enlargement of the extraocular muscles, fatty and connective tissue volume

Question 25

Describe the management of proliferative diabetic retinopathy

Answer 25

Panretinal photocoagulation

Question 26

Name two types of cataract associated with myotonic dystrophy

Answer 26

Stellate posterior cortical catact and ‘Christmas Tree’ (polychromatic) cataract

Question 27

Name two clinical signs of Marfan syndrome involving the hands

Answer 27

Wrist sign, thumb sign

Question 28

Name the pathognomonic type of cataract associated with myotonic dystrophy

Answer 28

Stellate posterior cortical catact

Question 29

Name the genetic mutation that causes classic dystrophia myotonica 1 (DM1)

Answer 29

AD mutation in dystrophia myotonica protein kinase gene DMPK

Question 30

Describe the clinical presentation of myotonic dystophy

Answer 30

Muscle wasting and weakness

Mournful facial expression (facial wasting, loose jaw)

Slurred speech (tongue/pharyngeal muscles involved)

Frontal baldness in males

Question 31

Name 3 drugs which can cause vortex keratopathy

Answer 31

Amiodarone

Hydroxychloroquine

Chlorpromazine

Question 32

Name 2 diseases associated with posterior synechiae

Answer 32

HLA B27 anterior uveitis, idiopathic anterior uveitis

Question 33

Define dermotomyositis

Answer 33

Autoimmune condition that causes skin changes and muscle weakness

Question 34

Describe the management of macular oedema

Answer 34

Anti-VEGF

Focal macular laser for clinically significant macular oedema (CSME)

Question 35

Name 3 diseases associated with ‘mutton-fat’ keratic precipitates (granulomatous anterior uveitis)

Answer 35

Sarcoidosis, TB, syphalis

Question 36

Name a musculoskeletal feature of Neurofibromatosis Type 1

Answer 36

Distinctive osseous lesion e.g. sphenoid dysplasia or thinning of long bone cortex, with or without pseudoarthrosis

Question 37

Describe the clinical features of Marfan syndrome

Answer 37

Tall, thin stature

Disproportionately long limbs compared with trunk

Arachnoidactoly

Narrow high-arched (‘gothic’) palate

Pectus excavatum

Dilated aortic root

Question 38

Name an ocular manifestation of Marfan syndrome

Answer 38

Disocated lens (ectopia lentis) - can be in any meridial but classically superotemporal

Question 39

Name 2 drugs which can cause bull’s eye maculopathy

Answer 39

Hydroxychloroquine

Chloroquine

Question 40

Name 2 non-ocular features of dermotomyositis

Answer 40

Proximal muscle weakness

Gottron’s papules on small joints of hands

Question 41

What are Lisch nodules?

Answer 41

Bilateral yellow or brown dome-shaped nodules which develop during 2nd-3rd decades of patients with NF1, eventually present in 95% of cases