retraction syndrome

re·trac·tion syn·drome

a retraction of the globe and pseudoptosis on attempted adduction; due to coinnervation of the horizontal recti. Sometimes there is an inability to abduct the affected eye (type 1), or adduct the affected eye (type 2), or both (type 3).

Synonym(s): Duane syndrome

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Duane radial ray syndrome

An autosomal dominant condition (MIM:102490) characterised by limited external rotation of the eyes and retraction with inward rotation, and by radial-ray-type bone defects in the hands (e.g., malformed or absent thumbs, extra thumb or finger-like thumb) and forearms (e.g., absence of one or more forearm bones); it may be accompanied by renal defects.

Molecular pathology
DRRS is caused by mutations of SALL4, which encodes a zinc finger transcription factor thought to play a role in musculoskeletal embryogenesis.

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Duane,

Alexander, U.S. ophthalmologist, 1858-1926.

Duane syndrome - a retraction of the globe and pseudoptosis on attempted adduction. Synonym(s): retraction syndrome

Medical Eponyms © Farlex 2012