Eye misalignment, called strabismus, is amongst the most common phenotypes observed, occurring in up to 5% of individuals in a studied population. While misalignment is frequently observed in rare complex syndromes, the majority of strabismus cases are non-syndromic. Over the past decade, genes and pathways associated with syndromic forms of strabismus have emerged, but the genes contributing t...

Fuciis.-Textbook of Ophthalmology (Duane). 1923. Arch. f. Ophrhal., Bd. LXXXVI, S. 155. GILBERT.-Arch. f. Augenheilk., Vol. LXXXVIII, S. 143, 1921. TREACHER COLLINs.-Roy. Lond. Ophthal. Hosp. Reps., Vols. I-XII, p. 273. COLLINS and MAYOU.-Pathology of the Eye, p. 18. PARSONS.-Pathology of the Eye. Vol. I Part I, p. 322, MORAX.-Bull. de la Soc. Fran9. d'Ophtal., Vol. XLIV, p. 365, 1931. HOUWER.-...

Rotational dynamics is known to polarize D0 branes into higher dimensional fuzzy Dp-branes: the tension forces between D0 branes provide the centripetal acceleration, and a puffed up spinning configuration stabilizes. In this work, we consider a rotating cylindrical formation of finite height, wrapping a compact cycle of the background space along the axis of rotation. We find an intriguing rel...

Is orienting of spatial attention dependent on normal functioning of the ocular motor system? We investigated the role of motor pathways in covert orienting (attentional orienting without performing eye movements) by studying three patients suffering from Duane Retraction Syndrome-a congenital impairment in executing horizontal eye movements restricted to specific gaze directions. Patients show...

Retinal hemorrhages are relatively common ophthalmologic findings associated with many ocular as well as systemic disease processes. While identifiable ocular or Systemic disease is found in most instances, hemorrhage can also be found in apparently healthy individuals secondary to various forms of physiologic or environmental stress such as that associated with high altitudes, in the newborn, ...

Okihiro syndrome refers to the association of forearm malformations with Duane syndrome of eye retraction. Based on the reported literature experience, clinical diagnosis of the syndrome can be elusive, owing to the variable presentation in families reported. Specifically, there is overlap of clinical features with other conditions, most notably Holt-Oram syndrome, a condition resulting from mu...

DUANE'S retraction syndrome (Duane, 1905) is frequently but not invariably associated with convergent strabismus when the eyes are in the primary position (Duke-Elder, 1964); if a head-turn is present, it will be in the direction of action of the paretic lateral rectus muscle. In the atypical retraction syndrome, the medial rectus is more paretic than the lateral rectus muscle; there is exophor...

PURPOSE To perform linkage analysis on an inbred family with members who exhibit different phenotypic forms of childhood strabismus. METHODS Prospective clinical examination and linkage analysis. RESULTS three of the ten siblings and their cousin each had a different phenotypic form of childhood strabismus: infantile esotropia with convergence excess, esotropia associated with anisometropic...

OBJECTIVES To present the outcomes of modified lateral rectus Y-splitting combined with either unilateral or bilateral horizontal rectus recession in Duane Retraction Syndrome (DRS) with significant upshoot or downshoot. MA­TE­RI­ALS AND MET­HODS A total of 12 patients including 10 patients with Type I DRS and 2 with Type III DRS underwent modified Y-splitting surgery. Amount of additional re...

T he SALL genes, similar to the Drosophila gene spalt, probably encode zinc-finger transcription factors. In humans, four such genes have been identified to date. Mutations at SALL1 on chromosome 16q12.1 have been associated with Townes-Brocks syndrome and related phenotypes, 3 and mutations at SALL4 have been shown to be causative in patients with Okihiro/Duane-radial ray syndrome (OMIM No 607...