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Chromosome 22 Central have been several reports in medical literature describing individual's who havea microdeletion on chromosome 22 and also have duane retraction syndrome. http://www.nt.net/~a815/chr22.htm
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Listings Of The World Health Conditions And Diseases Listings World Health Conditions and Diseases Neurological Disorders OcularMotility Disorders duane retraction syndrome. http://listingsworld.com/Health/Conditions_and_Diseases/Neurological_Disorders/O
Search By Disease 103 Duane anomaly with radial ray abnormalities and deafness. 104duane retraction syndrome 1 (DURS1). 105 Duane syndrome (DUS). http://www.eddnal.com/directory/disease.php?letter=D&page=7
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Extractions: Directory Tree: Top Health Conditions and Diseases Neurological Disorders ... Ocular Motility Disorders : Duane Retraction Syndrome (4) Add URL Advertise Here! Personalize Amazon ... Children's Hospital Boston - A description, photograph and review of the genetics of Duane syndrome. Duane Retraction Syndrome - A description of DRS, with clinical manifestations, pathogenesis and treatment. From University at Buffalo School of Medicine and Biomedical Sciences. NORD - Duane Syndrome - Offers the synonyms, a general discussion and further resources. Duane Retraction Syndrome - A discussion and support network for those affected by the syndrome.
Inside IOVS duane retraction syndrome is a common cause of congenital strabism andsome cases have genetic origins. As reported by Pizzuti et al. http://www.iovs.org/misc/12.2002.shtml
Extractions: p130 Expression in Retinoblastoma The retinoblastoma gene (RB/p105) is well known to be responsible for the pathogenesis of human retinoblastomas. Bellan et al. (p. 3602) studied the expression of a different tumor suppressor gene belonging to the retinoblastoma family (pRb2/p130) and found that its expression was altered in a certain number of cases with a lower apoptotic index and lower degree of differentiation. As the study included a considerable number of tumors with a low grade of differentiation and a very restricted expression of p130, this tumor suppressor gene may also be involved in the pathogenesis and progression of human retinoblastomas. [Abstract] [Full Text] A Candidate Gene for Duane Syndrome Duane retraction syndrome is a common cause of congenital strabism and some cases have genetic origins. As reported by Pizzuti et al. (p. 3609), two loci for autosomal dominant Duane syndrome have so far been identified on chromosomes 2q31 and 8q13. The analysis of a patient with isolated Duane syndrome and a reciprocal balanced translocation showed that a break in the chromosome 8q Duane region disrupted a gene identified as a carboxypeptidase family member, which is almost exclusively expressed in the brain. CPAH is the first candidate gene related to the Duane phenotype. [Abstract] [Full Text] in Anterior Segment Dysgenesis Mutations in the Forkhead/winged helix transcription factor gene
Rehabilitation Publications Congenital anomalies in patients with duane retraction syndrome and their relatives. 1999.Effects of Duane's retraction syndrome on sensory visual development. http://www.site4sight.org.uk/ResAreas/Rehab/general/Rehabpub.htm
Extractions: You Are Here : Home Research Index Rehabilitation Search This Site Rehabilitation PUBLICATIONS Links to Medline On-line Journals Title Journal Ref Date Authors Low vision services for vision rehabilitation in the United Kingdom. Abstract Br J Ophthalmol 2002, Jul Culham LE, Ryan B, Jackson AJ, Hill AR, Jones B, Miles C, Young JA, Bunce C, Bird AC. Title Journal Ref Date Authors Major orbital complications of endoscopic sinus surgery. Br J Ophthalmol 2001, Mar Rene C, Rose GE, Lenthall R, Moseley I Intensive occlusion therapy for amblyopia Br J Ophthalmol 2001, Mar Dorey SE, Adams GG, Lee JP, Sloper JJ Review of the inverse Knapp procedure: indications, effectiveness and results Eye 15(Pt 1):7-11. 2001, Feb Maurino V, Kwan AS, Lee JP. Active management in patients with ocular manifestations of myasthenia gravis Eye 15(Pt 1):18-22.
Extractions: AUTHOR INFORMATION Section 1 of 12 Authored by Michael T Yen, MD , Assistant Professor of Ophthalmology, Department of Ophthalmology, Cullen Eye Institute, Baylor College of Medicine Michael T Yen, MD, is a member of the following medical societies: American Academy of Ophthalmology American Society of Cataract and Refractive Surgery Association for Research in Vision and Ophthalmology , and Phi Beta Kappa Edited by Gerhard W Cibis, MD , Director of Pediatric Ophthalmology Service, Clinical Professor, Department of Ophthalmology, University of Kansas; Director, Clinical Professor, Department of Ophthalmology, Children's Mercy Hospital, University of Missouri at Kansas City; Donald S Fong, MD, MPH , Assistant Clinical Professor of Ophthalmology, UCLA School of Medicine; Consulting Physician, Department of Ophthalmology, Southern California Permamente Medical Group; J James Rowsey, MD
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Bomis: The Health/Senses/Vision Ring 59. duane retraction syndrome. A discussion and support network for thoseaffected by duane retraction syndrome, a rare eye movement disorder. http://www.bomis.com/rings/Msenses-vision-health/
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Extractions: Am Orthopt J 43:5-14 (1993) Electrophysiology and Pathology of Duane Retraction Syndrome Neil R. Miller, M.D. Duane's retraction syndrome is a congenital condition that is characterized clinically by abnormalities of abduction, adduction, or both. In the most common form of this condition, there is mild limitation of adduction associated with narrowing of the lid fissure and retraction of the globe, and moderate to severe limitation of abduction with widening of the lid fissure. Although it was once thought that the condition was caused by primary fibrosis of the lateral rectus muscle, electromyographic and pathologic studies have shown that the condition is caused by anomalous innervation of the horizontal rectus muscles such that in most cases, there are no abducens motoneurons in the region normally occupied by the abducens nucleus, there is no abducens nerve, and the affected lateral rectus muscle is innervated by a branch of the oculomotor nerve. The areas of fibrosis within the lateral rectus muscle are areas that lack innervation.
