PURPOSE: To report and discuss the clinical findings of a 17-member family with 2 siblings who exhibit ptosis and abnormal synkinetic lid elevation associated with ipsilateral abduction. SUBJECTS AND METHODS: Sixteen members of the 17-member immediate family underwent ophthalmic examination. RESULTS: Two siblings exhibited ptosis and abnormal synkinetic lid elevation associated with ipsilateral abduction. One was bilaterally affected and the other had unilateral findings. A third sibling had isolated bilateral congenital ptosis. A fourth demonstrated classic Duane syndrome Type I in the right eye. Other family members did not have ophthalmic abnormalities. CONCLUSIONS: A unifying mechanism of congenital cranial dysinnervation may underlie these and similar phenotypes of oculomotor and/or abducens nerve abnormalities with or without abnormal synkinesis.
PURPOSE: To report and discuss the clinical findings of a 17-member family with 2 siblings who exhibit ptosis and abnormal synkinetic lid elevation associated with ipsilateral abduction. SUBJECTS AND METHODS: Sixteen members of the 17-member immediate family underwent ophthalmic examination. RESULTS: Two siblings exhibited ptosis and abnormal synkinetic lid elevation associated with ipsilateral abduction. One was bilaterally affected and the other had unilateral findings. A third sibling had isolated bilateral congenital ptosis. A fourth demonstrated classic Duane syndrome Type I in the right eye. Other family members did not have ophthalmic abnormalities. CONCLUSIONS: A unifying mechanism of congenital cranial dysinnervation may underlie these and similar phenotypes of oculomotor and/or abducens nerve abnormalities with or without abnormal synkinesis.
Authors: Mary C Whitman; Noriko Miyake; Elaine H Nguyen; Jessica L Bell; Paola M Matos Ruiz; Wai-Man Chan; Silvio Alessandro Di Gioia; Nisha Mukherjee; Brenda J Barry; T M Bosley; Arif O Khan; Elizabeth C Engle Journal: Hum Mol Genet Date: 2019-09-15 Impact factor: 6.150