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
