This article reviews symptoms and signs of aberrant axon connectivity in humans, and summarizes major human genetic disorders that result, or have been proposed to result, from defective axon guidance. These include corpus callosum agenesis, L1 syndrome, Joubert syndrome and related disorders, horizontal gaze palsy with progressive scoliosis, Kallmann syndrome, albinism, congenital fibrosis of ...

T he units that are subject to selection pressure in evolutionary biology are ‘‘strategies,’’ which are conditional actions (for example, do P if X occurs; otherwise do Q). In contrast, the units in economics (they are called ‘‘people’’) select strategies from available menus so as to further their projects and purposes. If evolutionary dynamics involves mindless competition among strategies, e...

One suspected case of Wildervanck syndrome (OMIM 314600) reported from our tertiary care centre. is distinct other similar conditions due to its opthal and hearing associations-forming a clinical triad. Candidate gene identification in still pending whereas most genetic has got specific mutation. Klippel Feil anomaly one girl admitted centre with severe pneumonia showed features short neck, fus...

Duane (I905) emphasized six features of a characteristic congenital ocular motility syndrome: (i) Complete, or less often partial, loss of abduction of the affected eye; (2) Partial, or rarely complete, restriction of adduction of the aHected eye; (3) Retraction of the affected eye into the orbit on adduction; (4) Oblique overshoot of the affected eye either up and in or down and in on adductio...

PURPOSE Neuroimaging findings in Duane's retraction syndrome (DRS), through magnetic resonance imaging (MRI), suggest that aplasia of the abducens nerve (VI) can be responsible for several forms of DRS. METHODS Brain MRI was performed in two children of 2.5 and 7 years of age with left sided DRS type II and right sided DRS type I, respectively. 3D T2 weighted images through the brainstem were...

PURPOSE To report the results of using prismatic glasses for Duane retraction syndrome (DRS). METHODS Data were obtained from the records of patients who were evaluated during the year 2000 in the Strabismus Unit of the Beyoglu Eye Training and Research Hospital. The average follow-up was 12.2±17.7 months. In all cases, 2 main variables were evaluated: horizontal deviation in the primary posi...

We report here a patient with type 1 Duane's retraction syndrome and multiple congenital abnormalities as a result of the VACTERL association. The presented combination of Duane's retraction syndrome and the VACTERL association has not been reported in the literature. The present case was instructive for reviewing the continuous spectrum of ocular anomalies that accompany the VACTERL association.

S ynergistic divergence is a well-established clinical condition in which abduction arises on attempted adduction, leading to simultaneous abduction of both eyes on lateral gaze. Synergistic divergence can occur as an extreme form of Duane syndrome, where most if not all oculomotor nerve branch fibers originally directed to the medial rectus muscle innervate the lateral rectus muscle. Synergist...