TY - JOUR
T1 - When straight eyes won't move
T2 - Phenotypic overlap of genetically distinct ocular motility disturbances
AU - Oystreck, Darren T.
AU - Salih, Mustafa A.
AU - Bosley, Thomas M.
PY - 2011/12
Y1 - 2011/12
N2 - Objective: To describe the phenotypic similarity in a series of patients with genetically distinct ocular motility disturbances involving straight eyes and different ocular motor pathology. Design: Retrospective case series. Participants: Clinical and genetic evaluation of 5 patients with straight eyes in the primary position and abnormalities of ocular motility. Results: Patients with oculopharyngeal muscular dystrophy, congenital myasthenic syndrome, congenital fibrosis of the extraocular muscles type 3, Bosley-Salih-Alorainy syndrome, and horizontal gaze palsy and progressive scoliosis all had straight eyes in primary position and restricted ocular motility. History, ocular motility patterns, systemic features of individual syndromes, and genetic screening were important diagnostically. Conclusions: A number of congenital and genetic ocular motility syndromes may result in substantial phenotypic overlap, particularly when eyes are straight in primary position and nonophthalmologic features are not apparent or not observed. The range of disorders that may fall into this category is discussed.
AB - Objective: To describe the phenotypic similarity in a series of patients with genetically distinct ocular motility disturbances involving straight eyes and different ocular motor pathology. Design: Retrospective case series. Participants: Clinical and genetic evaluation of 5 patients with straight eyes in the primary position and abnormalities of ocular motility. Results: Patients with oculopharyngeal muscular dystrophy, congenital myasthenic syndrome, congenital fibrosis of the extraocular muscles type 3, Bosley-Salih-Alorainy syndrome, and horizontal gaze palsy and progressive scoliosis all had straight eyes in primary position and restricted ocular motility. History, ocular motility patterns, systemic features of individual syndromes, and genetic screening were important diagnostically. Conclusions: A number of congenital and genetic ocular motility syndromes may result in substantial phenotypic overlap, particularly when eyes are straight in primary position and nonophthalmologic features are not apparent or not observed. The range of disorders that may fall into this category is discussed.
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U2 - 10.1016/j.jcjo.2011.09.009
DO - 10.1016/j.jcjo.2011.09.009
M3 - Article
C2 - 22153632
AN - SCOPUS:84455203057
VL - 46
SP - 477
EP - 480
JO - Canadian Journal of Ophthalmology
JF - Canadian Journal of Ophthalmology
SN - 0008-4182
IS - 6
ER -