Chronic Progressive External Ophthalmoplegia (CPEO)

Question 1

Which muscle is underacting in a V pattern and which is underacting in an A pattern?

Answer 1

SR underaction -> more of a V pattern
IR underaction -> more of an A pattern

Question 2

Describe chronic progressive external ophthalmoplegia (CPEO)?

Answer 2

• Can be congenital or acquired
• Chronic Progressive External Ophthalmoplegia
  o Chronic – once they have they have it for life
  o Not acute – not something that will go away
• Mitochondrial disorder
  o Mitochondria gives muscle power – when no power, muscle starts to fibrose
• Associated with Kearns Sayre Syndrome
  o If in younger pxs the this can be associated
  o If they have this then they will have associated retinopathy  need to do a fundus check
• 1st sign: bilateral ptosis
• Once fully developed – px unable to move eyes at all
  o They have to move head as cant move eyes
• No diplopia since both eyes are restricted in same way
• Referred into hospital by optom
• Ductions & versions are equal -> eyes cannot elevate in any way
  o Then start to have problems with abduction, adduction then depression

Question 3

What are the clinical features of chronic progressive external ophthalmoplegiaa (CPEO)?

Answer 3

• Progressive symmetrical loss of motility
  o Symmetrical – both eyes – no diplopia
• Usually upgaze is 1st to be affected
• Ptosis & orbicularis weakness
  o Orbicularis weakness – should not be easy to open someone’s eyes but in this you will be able to
• Normal pupils & accommodation
  o Should be no other visual effects of this – eyes functioning normally
• Diplopia not commonly complained of as symmetrical & v slowly progressive
• Final stages have virtually no eye movements with +ve FDT due to secondary fibrosis
  o Myogenic disorder
  o Eyes will not move in end stage – muscles are fibrotic – similar to end stage of Graves’ disease

Question 4

What is Kearns Sayre Syndrome? What is the differential diagnosis? What must you NOT do in these pxs?

Answer 4

• CPEO (in childhood)
• Fine pigmentary retinopathy
  o Differential diagnosis: Retinitis pigmentosa (referring them anyway) – but if they have ptosis then likely it is this
• Heart conduction block
  o DO NOT CYCLO THEM
  o If see ptosis & look at them with direct ophthalmoscope & see pigmentary retinopathy then do not dilate them

Question 5

What is the differential diagnoses of chronic progressive external ophthalmoplegia (CPEO)?

Answer 5

• Myasthenia – fatigable ptosis
  o In CPEO there is unlikely to be a fatigable ptosis since the muscles are fibrotic
• Graves’
  o Look for proptosis, periorbital oedema, lid lag etc
  o Hx: do they have a thyroid disfunction? Whether hyper or hypo
• Supranuclear Gaze Palsy
  o Problems looking up – look for signs of Parinauds – unlikely to be a ptosis -> think about this in older pxs – URGENT referral
• Multiple Nerve Palsies
  o 3rd, 4th, 6th – they will have classic features & will be unilateral not bilateral

Question 6

What is the management of chronic progressive external ophthalmoplegia (CPEO)?

Answer 6

• Fundoscopy
  o Looking for pigment changes – they may tell you they’ve had CPEO for while
• ECG
  o To make sure no heart conduction block
• Orthoptic assessment to include UFOF
  o Px must be remaining foveal fixation – dot on perimeter must remain reed, if starts to become pink then no longer fixing with fovea -> must be done on people with CPEO & thyroid – to check for fibrotic muscles
• Ptosis Props/Fresnels – fresnels used in people who are slightly asymmetrical in their muscle fibrosis
• Surgery – unreliable – then have problems with lid closure – got a weakness

Question 7

What are the key parts of chronic progressive external ophthalmoplegia (CPEO)?

Answer 7

• Bilateral ptosis
• Chronic progressive – gets worse, have it for life
• Starts with limitation of elevation
• Should it be presenting in childhood then looking for Kearns Sayre Syndrome and looking for pigmentaty changes -> RARE