Bilateral Marcus Gunn jaw winking synkinesis with monocular elevation deficiency: a case report and literature review.

Marcus Gunn jaw winking synkinesis (MGJWS) occurs due to an aberrant innervation of the levator palpebrae superioris muscle by a branch of the motor division of the trigeminal nerve that supplies the muscles of mastication. MGJWS is mostly unilateral occurring in isolation and is less frequently associated with ocular or systemic abnormalities. Although MGJWS is mostly unilateral, few bilateral cases have been reported. Here we describe a rare case of bilateral MGJWS in an 18 year-old male patient with asymmetric bilateral ptosis and monocular elevation deficiency in the right eye.

Cyclodeviation of the retinal vascular arcades: an accessory sign of ocular torsion.

Assessment of ocular torsion via fundus examination is an important tool for diagnosis and management of cyclorotational disorders. The widely used disc-macula relationship for quantification of ocular torsion possesses inherent limitations, which restricts its use in some clinical scenarios. An accessory technique of fundus examination for assessing torsion is hereby proposed using vascular cues. Retinal blood vessels share common guidance signals with ganglion cell axons and are now recognised to follow retinal axonal pathways. Identification of the axis of the retinal vascular arcades can serve as a direct and accessory means to provide additional pertinent information regarding ocular cyclorotations.

Analysis of the SALL4 gene in patients with Duane retraction syndrome in a South Indian population.

Duane retraction syndrome (DRS) is a congenital eye movement disorder characterized most typically by partial or complete failure of abduction and narrowing of palpebral fissure with globe retraction on adduction. Recently mutations of the SALL4 gene on chromosome 20 have been linked to DRS associated with radial forearm malformations (Okihiro syndrome). In this prospective, non-interventional study we screened for SALL4 mutations in 72 patients clinically diagnosed as having isolated DRS or DRS associated syndromes. All four exonic and the neighboring intronic regions of SALL4 gene were amplified by sixteen sets of primers using polymerase chain reaction and were subjected to bi-directional sequencing and BLAST analysis. No genetic variations were detected in the coding region and in the neighboring intronic regions of the SALL4 gene suggesting an alternative mechanism in the pathogenesis of these disorders in the South Indian population.