Familial total ophthalmoplegia with iris transillumination (a neurocristopathy).
A family with total (internal and external) ophthalmoplegia had associated iris transillumination. No abnormal visual-evoked response brain lateralization indicative of albinism was found. On the basis of avian chimera experiments showing iris muscles to be derived from neural crest cells, we proposed a neurocristopathic theory to explain all clinical findings in this family.
Cibis
G W
GW
Children's Mercy Hospital, University of Missouri Kansas City School of Medicine, Kansas City.
Tripathi
R C
RC
Tripathi
B J
BJ
Seidel
F G
FG
D005260:Female; D006801:Humans; D007498:Iris / Q000294:innervation; D007499:Iris Diseases / Q000150:complications* / Q000473:pathology; D008297:Male; D009432:Neural Crest / Q000473:pathology; D009801:Oculomotor Muscles / Q000000981:diagnostic imaging / Q000473:pathology; D009886:Ophthalmoplegia / Q000000981:diagnostic imaging / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D014172:Transillumination