Familial aplasia of the inferior rectus muscles.
OBJECTIVE
We describe inferior rectus aplasia in three members of a family. No family member showed signs of craniofacial dysostosis syndromes or neurofibromatosis.


RESULTS
A woman with abnormal head posture, right exotropia, and right hypotropia presented to our clinic. She mentioned that her two children had similar problems. A provisional diagnosis of ocular fibrosis or atypical Duane syndrome was made and she underwent surgery. During surgery, the inferior rectus muscle could not be identified in either eye. Subsequently, her children were examined and orbital magnetic resonance imaging (MRI) was performed for all family members. MRI confirmed bilateral absence of the inferior rectus muscles in the mother and unilateral absence with atrophic and fibrotic contralateral inferior rectus muscles in the children.


CONCLUSIONS
This is the first report in the literature of a family with aplastic inferior rectus muscles with no signs of craniosynostosis or neurofibromatosis.
Pimenides
Dimitris
D
Sunderland Eye Infirmary, Sunderland, United Kingdom.
Young
Soon
S
Minty
Ian
I
Spratt
Jonathan
J
Tiffin
Peter A C
PA
D000328:Adult; D001284:Atrophy; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D005260:Female; D005355:Fibrosis; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009801:Oculomotor Muscles / Q000002:abnormalities* / Q000473:pathology; D013508:Ophthalmologic Surgical Procedures; D013285:Strabismus / Q000151:congenital* / Q000175:diagnosis / Q000601:surgery