Transcript Slide 1

Congenital Fibrosis of the Extraocular Muscles
CFEOM1 criteria:
CFEOM2 criteria:
CFEOM3 criteria:
• Congenital bilateral ptosis and congenital
bilateral ophthalmoplegia
• Congenital bilateral ptosis and congenital
bilateral ophthalmoplegia
• Patients who do not meet CFEOM type 1 or
type 2 criteria
• AND primary vertical position of both eyes
below the horizontal midline
• AND primary vertical position of both eyes
slightly below the horizontal midline or normal
• Patients with unilateral disease
• AND inability to raise either eye above the
midline point
• AND primary horizontal position of both eyes
fixed outward
• Family history consistent with autosomal
dominant inheritance
• Family history consistent with autosomal
recessive inheritance
KIF21A exons 8, 20 and 21 sequencing
POSITIVE
Test other
affected family
members
NEGATIVE
• With/without extraocular neurological
features
TUBB3 sequencing
PHOX2A sequencing
POSITIVE
Test parents
and other
affected family
members
NEGATIVE
POSITIVE
Test other
affected family
members
NEGATIVE
KIF21A exons 8, 20 and 21 sequencing
TUBB3 sequencing
POSITIVE
Test other
affected family
members
NEGATIVE
POSITIVE
Test other
affected family
members
NEGATIVE