OMIM ID:
Fibrosis of Extraocular Muscles, Tukel CFEOM Syndrome
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
A single consanguineous Turkish family with six affected individuals with non-progressive restrictive ophthalmoplegia, ptosis, and ulnar hand anomalies has been reported. The restriction of ocular motility and ptosis was most pronounced on the right side. Four patients had a combination of 12-18 PD XT and 25 PD hypotropia (OD). Visual acuity was 20/20 in at least one eye while 3 had 5/200 or 20/200 in the right eye. Restriction of elevation of the right eye was noted and this was more pronounced on adduction. The dysfunctional extraocular muscles were determined to be the superior rectus and/or the inferior oblique. Forced ductions were usually negative. All patients had a head tilt or turn and three had some degree of ptosis with restriction of elevation.
Systemic Features
Hand anomalies consisting of post-axial (ulnar) digital anomalies were most pronounced on the right side. The 5th digit was hypoplastic or missing from all hands, right and left, while various wrist bones were absent or anomalous primarily in the right hand. One patient had syndactyly of the 4th and 5th fingers on the left hand and another had both 4th and 5th fingers missing from the left hand.
Genetics
Inheritance
The consanguinity in this Turkish kindred suggests autosomal recessive inheritance. A locus at 21qter has been associated with the disorder but no specific mutation has been found.
Other nonsyndromal forms of congenital fibrosis of extraocular muscles include: CFEOM1 (135700), CFEOM2 (602078), CFEOM3C (609384), CFEOM5 (616219), and CFEOM with synergistic divergence (609612).
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.