Midline orofacial cleft defects in association with type 1 Duane's retraction syndrome.

摘要

Anomalies of ocular motility associated with Duane's retraction syndrome (DRS) have often been perceived as isolated phenomena arising as a result of congenital ocular miswiring between the lateral and medial recti muscles. Interestingly, the reporting of concomitant ocular and systemic anomalies arising in the setting of DRS discounts this narrow perception and highlights the importance of a thorough investigation for non-ocular comorbidities. A 37-year-old Caucasian male presented for a routine ocular examination with complaints of gradual reduction in uncorrected near vision. Our testing confirmed the characteristic deficit of abduction, palpebral fissure narrowing and globe retraction consistent with a type 1 Duane's defect of the right eye. A midline cleft lip and palate were also noted in the absence of signs of nuchal rigidity/reduced range of motion in the cervical spine, spinal misalignment, deafness, optic nerve anomalies, hypertelorism or altered mental state. Awareness of key comorbidities and the importance of thorough clinical evaluation with appropriate supplemental testing and consultation with a paediatric ophthalmologist are warranted in non-isolated presentations of DRS.