CCDD Flashcards
Most common types of CCDD
Congenital fibrosis of extra ocular muscles CFEOM
Duane Syndrome
Strabismus Fixus
Brown Syndrome
Congenital Ptosis
Congenital Ophthalmoplegia
Congenital Strabismus
Horizontal gaze palsy
Marcus Gunn Syndrome
Moebius syndrome
Double Elevator Palsy
Congenital fibrosis of EOM’s background (CFEOM)
Congenital fibrosis of extraocular muscles was first described by Baumgarten (1840) and it has a familial component. Brown (1950) classified these conditions as “generalized fibrosis syndrome”.
Congenital fibrosis of EOM’s features
CFEOM is a non-progressive disorder characterised by fibrosis of the muscles innervated by the oculomotor and trochlear nerves causing restrictive ophthalmoplegia and ptosis.
Prevalence and typed of congenital fibrosis of EOMs
It is prevalent in 1:230,000 and there are three types; CFEOM1, 2 and 3. CFEOM1 & CFEOM3 are autosomal dominant. CFEOM2 is autosomal recessive.
It’s sporadic (less common) and it affects males and females equally
Its a non progressive disorder so..
fibrosis of muscles innervated by the 3rd, 4th and 6th cranial nerves → resulting in restrictive ophthalmoplegia and ptosis. Fibrosis of all extraocular muscles and fibrosis of Tenon’s capsule
Causes adhesions between muscles and…
Tenon’s capsule and globe and inelasticity of conjunctiva.CFEOM fibrosis of the muscles innervated by the oculomotor and trochlear nerves causing restrictive ophthalmoplegia and ptosis.
Most common CFEOM is
CFEOM1 also know as the classic CFEOM with bilateral ophthalmoplegia and ptosis from birth
Genetics and CFEOM 1,2,3
CFEOM1 linked to chromosome 12; disease causing gene KIF21A
CFEOM2 linked to chromosome11; caused by mutation in ARIX
CFEOM3 most linked to chromosome 16; caused by TUBB3 mutations, but some linked to to chromosome 12; disease causing gene KIF21A like CFEOM1
CFEOM characteristics
it’s a non progressive disorder that induces fibrosis of muscles innervated by the 3rd, 4th and 6th CN. It induces restrictive ophthalmoplegia and ptosis, fibrosis of tenon’s capsule and all EOM’s, adhesions between muscles, tenon’s capsule and glove, inelasticity of conjunctiva
Features of CFEOM 1
MOST COMMON
- Bilateral ptosis
- Severe restriction on upgaze (neither eye can reach midline). Downgaze and horizontal movement variable restricted.
- Large hypotropia, exotropia or esotropia.
- Misdirected eye movements common, incl. bilat conv on attempted up gaze.
- AHP – Chin up
- Dominant Inheritance
- KIF21A
Features of CFEOM2
Recessive inheritance PHOX2A
- Bilateral ptosis and absent adduction, upgaze, and downgaze, appearance like bilateral 3rd Nerve palsies. Abduction present but can be incomplete.
- Pupils often small and nonreactive to light
- Neuroimaging shows 3rd nerve are absent bilaterally
Features of CFEOM3
dominant inheritance TUBB3
- Similar to CFEOM1 except can be more variable, and may have the ability to evelate eyes above midline
- Can have associated facial palsy, peripheral neuropathy, wrist and finger contractures, intellectual, social and behavioural impairments.
Tukel syndrome
Recessive inheritance and the gene location is 21q22 TUKLS.
Same features as CFEOM3 but its mainly unilateral bilateral. It induces postaxial oligodactyly or oligosyndactyly of hands and absent/Fused carpel bones
Postaxial oligodactyly
the absence of metacarpals, metatarsals, and phalanges i.e. missing bones of little fingers and little toes
Oliigosyndactyly of hands
when missing bones in fingers of hand
Investigation of CFEOM
Orthoptic investigations
AHP documentation, VA – may be reduced, pupils, CT, OM, test for Bell’s Phenomenon
And BSV tests with AHP if possible
Ophthalmology investigations
Fundus and media check, refraction, high levels of myopia and astigmatism not uncommon, reduced VA ERG/OCT, abnormal rod and cone function found in 10 px with CFEOM2 (Kahn et al 2015 and genetic testing
BSV and UFOF
Management of CFEOM
Amblyopia treatment and surgery
The aim with surgery is for clear pupillary axis in primary gaze, alleviating head posture and aligning the eyes in pp. MRI scans are recommended, FDT +VE. Surgical options are weakening procedures to weaken the size of hypotropia, Large IR recessions with conjuctival recessions. Disinsertions of IR with temporary elevation of globe with fixation sutures. Ptosis surgery for brow suspension- aim is to lift kids only to upper border of pupils and avoid exposure due to absent Bells phenomenon
If no significant AHP
patients may avoid surgical intervention
Aims of strabismus surgery
Clear pupillary axis in primary gaze
Alleviate head posture
Align eyes in primary position
MRI scan for CPRO
MRI scan recommended to establish any abnormal EOM and 3rd,4th or 6th nerves
MRI scan revealed hypoplasia or aplasia of the cranial nerves and thickness of EOM is less than normal muscles
Case 1- CFEOM type 3 features
Left hypotropia, limited elevation, 1 previous ptosis sx
FDT +ve for tight LIR muscle – suspect IR fibrosis
Use the stepwise surgical approach
Case 1- CFEOM type 3 management
FDT +ve for tight LIR muscle
Adhesions and fibrosis bands released
Large LIR recession (12mm) on adjustables
Adjustment performed within 1 week
Case 2- CFEOM case 2 features
1 week post-op: hypotropia has improved markedly study said within 9 Dioptres of hypotropia, but residual ptosis due to lid oedema (swelling)
1 month post-op: reduced lid oedema and ptosis, improved elevation of LE
Case 3- CFEOM type 1
Patient has typical CFEOM1 features including infraduction of eyes in pp, inability to elevate above midline and ptosis
Horizontal gaze palsy with progressive scoliosis HGPPS
It’s a rare recessive CCDD and there are only two reported types. Only a several dozen known cases – consanguineous families. It differentiate from: Duanes syndrome type 3 or HGP with facial weakness (Moebius syndrome).
HGPPS types
Type 1 and 2
HHGPS type 1 features
- ROBO3 gene – 11q24.2
- Horizontal gaze palsy
- Progressive external Ophthalmoplegia (onset at birth)
- Progressive Scoliosis (onset from as young as 2yrs)
- Pontine and cerebellar hypoplasia
HHGPS type 2
- DCC gene 18q21.2
- Horizontal gaze palsy
- Progressive Scoliosis
- Hypotonia muscles
- Delayed psychomotor development
- Intellectual disability
- Hypoplastic pons and midbrain
- Decreased axonal integrity and myelination
Congenital ptosis features
It involves the PTOS1 gene and has a dominnat inheritance pattern. It is variable in soze and induces isolated congenital ptosis. It can be unilateral or bilateral and the patient frequently requires surgery to elevate the eyelids and an X linked type has been described but no gene was found.
Orthoptic reports of Duanes
Type 3/A in pp
Findings in type 3/A Duanes case study
- Testing of the brother and father revealed that the brother also had MED of the right eye, reduced VA and chin up AHP
- Father had bilateral ptosis, LET, bilateral limitation of elevation and chin up – consistent with CFEOM1/3
- Neurological exam revealed 2/3 had mild facial palsy and ataxia. MRI revealed hypoplastic 3rd Nerves
- Genetic testing revealed the family had TUBB3 mutation
