Familial ptotic lid elevation during ipsilateral abduction.
OBJECTIVE
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.


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.
Khan
Arif O
AO
Department of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Al-Hommaidi
Abdulrahman
A
Al-Turkmani
Shahira
S
D000293:Adolescent; D000328:Adult; D001763:Blepharoptosis / Q000235:genetics*; D002675:Child, Preschool; D005143:Eyelids / Q000294:innervation*; D005260:Female; D006801:Humans; D008297:Male; D015835:Ocular Motility Disorders / Q000235:genetics* / Q000503:physiopathology; D009801:Oculomotor Muscles / Q000294:innervation*; D009802:Oculomotor Nerve / Q000002:abnormalities*; D010375:Pedigree