MR imaging of familial superior oblique hypoplasia.
BACKGROUND
Congenital superior oblique palsy is usually associated with a structural abnormality of the superior oblique tendon. There have been many reports of familial congenital superior oblique palsy. However, there has been no MRI documentation of familial superior oblique hypoplasia.


METHODS
Ophthalmological examination and orbital MRI were performed in three patients in a pedigree with familial superior oblique palsy. They showed typical signs of superior oblique palsy, including superior oblique underaction and overelevation in adduction on the affected side, torticollis in the early part of life, and positive head tilt testing.


RESULTS
Moderate to severe superior oblique hypoplasia was identified in all three affected family members.


CONCLUSIONS
Superior oblique hypoplasia confirmed with MRI was useful for clarifying the aetiology of familial superior oblique palsy.
Kim
Jae Hyoung
JH
Department of Radiology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
Hwang
Jeong-Min
JM
D000328:Adult; D002648:Child; D015785:Eye Diseases, Hereditary / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009801:Oculomotor Muscles / Q000002:abnormalities* / Q000473:pathology; D010375:Pedigree; D014103:Torticollis / Q000209:etiology / Q000235:genetics; D020432:Trochlear Nerve Diseases / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics