Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The rectus extraocular muscles (EOMs) and inferior oblique muscle have paths through the orbit constrained by connective tissue pulleys. These pulleys shift position during contraction and relaxation of the EOMs, dynamically changing the biomechanics of force transfer from the tendon onto the globe. The paths of the EOMs are tightly conserved in normal patients and disorders in the location and/or stability of the pulleys can create patterns of incomitant strabismus that may mimic oblique muscle dysfunction and cranial nerve paresis. Developmental disorders of pulley location can occur in conjunction with large, obvious abnormalities of orbital anatomy (e.g., craniosynostosis syndromes) or subtle, isolated abnormalities in the location of one or more pulleys. Acquired disorders of pulley location can be divided into four broad categories: Connective tissue disorders (e.g., Marfan syndrome), globe size disorders (e.g., high myopia), senile degeneration (e.g., sagging eye syndrome), and trauma (e.g., orbital fracture or postsurgical). Recognition of these disorders is important because abnormalities in pulley location and movement are often resistant to standard surgical approaches that involve strengthening or weakening the oblique muscles or changing the positions of the EOM insertions. Preoperative diagnosis is aided by: (1) Clinical history of predisposing risk factors, (2) observation of malpositioning of the medial canthus, lateral canthus, and globe, and (3) gaze-controlled orbital imaging using direct coronal slices. Finally, surgical correction frequently involves novel techniques that reposition and stabilize the pulley and posterior muscle belly within the orbit using permanent scleral sutures or silicone bands without changing the location of the muscle's insertion.
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PMID:The Role of Extraocular Muscle Pulleys in Incomitant Non-Paralytic Strabismus. 2618 Apr 64

Marfan syndrome is an autosomal dominant genetic disorder caused by a connective tissue defect. A nine-year-old girl was referred to our pediatric endocrinology clinic for tall stature. Physical examination revealed a lens dislocation with strabismus, high palate, positive wrist and thumb signs, joint hypermobility, and pes planus. Transthoracic echocardiography revealed dilatation of the aortic root. She was diagnosed with Marfan syndrome based on the revised Ghent diagnostic criteria. Molecular investigation identified a heterozygous c.2810G >A variation in the FBN1 gene in the patient, but not in her parents. To our knowledge, this sequence variant has been reported as a polymorphism (rs113602180), but it is the first report identifying it as the genetic cause of Marfan syndrome. We hypothesize that this de novo novel missense FBN1 mutation disrupts fibrillin-1 function and is probably involved in the development of Marfan syndrome in this patient.
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PMID:A Novel Fibrillin-1 Gene Mutation Leading to Marfan Syndrome in a Korean Girl. 2844 27