the eye in systemic diseases

Question 1

describe what you can see here?

what is the diagnosis?

Answer 1

• bilateral facial wasting with hollow cheeks
• ptosis (drooping of the eyelid)
• frontal baldness
• left exotropia

Myotonic dystrophy

Question 2

what is myotonic dystrophy?

Answer 2

-difficulty in releasing grip

‘myotonia’= delayed muscle relaxation on stopping voluntary action

Question 3

what causes myotonic dystrophy?

Answer 3

-autosomal dominant mutation in dystrophia myotonic protein kinase gene DMPK

Question 4

how does myotonic dystrophy present?

Answer 4

• muscle wasting and weakness
• mournful facial expression (facial wasting, loose jaw)
• slurred speech (tongue/pharyngeal muscles involved)
• frontal baldness in males

Ocular:
common:
-early onset cataract
-ptosis (eyelid drooping)
-hypermetropia (long sightedness)

uncommon:

• mild ophthalmoplegia
• pupillary light near dissociation
• pigmentary retinopathy
• optic atrophy

Question 5

what may be seen in the eye on examination of someone with myotonic dystrophy?

Answer 5

• stellate posterior cortisol cataract

- ‘Christmas tree’ cataract

Question 6

apart from with myotonic dystrophy, when would a Christmas tree cataract be seen?

Answer 6

-it can be age related

Question 7

what can you see?

what is the diagnoses?

Answer 7

Multiple skin lesions
size- few mm to several cm
colour- pink to skin coloured
shape- dome shaped

diagnoses= neurofibromatosis

Question 8

in an OSCE what investigation would be done for myotonic dystrophy?

Answer 8

-shake their hand (they will struggle to release their grip)

Question 9

what investigations are done for neurofibromatosis?

Answer 9

• enquire family history

- full body exam for other skin lesions + slit lamp exam

Question 10

how is neurofibromatosis diagnosed?

Answer 10

if they have 2 or more of the following:

• 6 or more cafe au lait macules >5mm in greatest diameter if pre pubertal, >15mm in greatest diameter if post pubertal
• 2 or more neurofibromas of any type, or one plexiform neurofibroma
• axillary or inguinal freckling
• optic glioma
• two or more Lisch nodules (iris hamartomas)
• a distance osseous lesion e.g. sphenoid dysplasia or thinning of long bone cortex, with or without pseudoarthritis
• a first degree relative (parent, sibling or offspring) with NF1

Question 11

Answer 11

Question 12

Answer 12

Question 13

describe, what would you do next in OSCE and what is diagnoses?

Answer 13

• dermatomyositis
• this is a heliotrope rash
• may have Gattron’s papules on back of hand and Shawl sign on shoulders

Question 14

what can you see, what is the diagnosis and what would you do next in an OSCE?

Answer 14

hard palate (covered)

Question 15

how may RA present in the eyes?

Answer 15

• scleromalacia perforans

- peripheral ulcerative keratitis

Question 16

what may cause autoimmune uveitis?

Answer 16

• sarcoidosis
• TB
• syphilis

Question 17

what drugs ma cause vortex keratopathy?

Answer 17

Question 18

what drugs may cause bulls eye maculopathy?

Answer 18

• hydroxychloroquine

- chloroquine