WordNet

the act of pulling or holding or drawing a part back; "the retraction of the landing gear"; "retraction of the foreskin"
a disavowal or taking back of a previous assertion (同)abjuration, recantation
a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

〈C〉引っ込めること / 〈C〉〈U〉(約束・意見などの)撤回
(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/05/08 08:26:00」(JST)

wiki en

Duane's syndrome is a congenital rare type of strabismus most commonly characterized by the inability of the eye to move outwards. The syndrome was first described by ophthalmologists Jakob Stilling (1887) and Siegmund Türk (1896), and subsequently named after Alexander Duane who discussed the disorder in more detail in 1905.^[1]

Other names for this condition include: Duane's Retraction Syndrome, Eye Retraction Syndrome, Retraction Syndrome, Congenital retraction syndrome and Stilling-Turk-Duane Syndrome.^[2]

Clinical presentation

Patient with Duane syndrome attempting to look far right. Notice the afflicted left eye faces straight and up, rather than following the right eye to the right.

The characteristic features of the syndrome are:

Limitation of abduction (outward movement) of the affected eye.
Less marked limitation of adduction (inward movement) of the same eye.
Retraction of the eyeball into the socket on adduction, with associated narrowing of the palpebral fissure (eye closing)
Widening of the palpebral fissure on attempted abduction. (N.B. Mein and Trimble ^[3] point out that this is "probably of no significance" as the phenomenon also occurs in other conditions in which abduction is limited).
Poor convergence
A head turn to the side of the affected eye to compensate for the movement limitations of the eye(s) and to maintain binocular vision.

While usually isolated to the eye abnormalities, Duane syndrome can be associated with other problems including cervical spine abnormalities Klippel-Feil syndrome, Goldenhar syndrome, heterochromia, and congenital deafness.^[4]

Causes

Duane's syndrome is most probably a miswiring of the eye muscles, causing some eye muscles to contract when they shouldn't and other eye muscles not to contract when they should.^[2] Alexandrakis and Saunders found that in most cases the abducens nucleus and nerve are absent or hypoplastic, and the lateral rectus muscle is innervated by a branch of the oculomotor nerve.^[5] This view is supported by the earlier work of Hotchkiss et al. who reported on the autopsy findings of two patients with Duane's syndrome. In both cases the sixth cranial nerve nucleus and nerve was absent, and the lateral rectus muscle was innervated by the inferior division of the third or oculomotor nerve. This misdirection of nerve fibres results in opposing muscles being innervated by the same nerve. Thus, on attempted abduction, stimulation of the lateral rectus via the oculomotor nerve will be accompanied by stimulation of the opposing medial rectus via the same nerve; a muscle which works to adduct the eye. Thus, co-contraction of the muscles takes place, limiting the amount of movement achievable and also resulting in retraction of the eye into the socket. They also noticed mechanical factors and considered them secondary to loss of innervation: During corrective surgery fibrous attachments have been found connecting the horizontal recti and the orbital walls and fibrosis of the lateral rectus has been confirmed by biopsy. This fibrosis can result in the lateral rectus being 'tight' and acting as a tether or leash. Co-contraction of the medial and lateral recti allows the globe to slip up or down under the tight lateral rectus producing the up and down shoots characteristic of the condition.^[6]

Genetics

The gene sal-like 4 (SALL4) has been implicated as a cause of this condition.^[7]

Epidemiology

Most patients are diagnosed by the age of 10 years and Duane's is more common in girls (60 percent of the cases) than boys (40 percent of the cases). A French study reports that this syndrome accounts for 1.9% of the population of strabismic patients, 53.5% of patients are female, is unilateral in 78% of cases, and the left eye (71.9%) is affected more frequently than the right.^[8] Around 10–20% of cases are familial; these are more likely to be bilateral than non-familial Duane syndrome. Duane syndrome has no particular race predilection.

Classification

Duane's syndrome has three variants:

Type I: Limited abduction with or without esotropia
Type II: Limited adduction with or without exotropia
Type III: Limitation of both abduction and adduction and any form of horizontal strabismus

The first type is more common and accounts for 85% of the cases.^[4]^[9]

Differential diagnosis

In the clinical setting, the principal difficulties in differential diagnosis arise as a consequence of the very early age at which patients with this condition first present. The clinician must be persistent in examining abduction and adduction, and in looking for any associated palpebral fissure changes or head postures, when attempting to determine whether what often presents as a common childhood squint is in fact Duane syndrome. Fissure changes, and the other associated characteristics of Duane's such as up or down shoots and globe retraction, are also vital when deciding whether any abduction limitation is the result of Duane's and not a consequence of VI or abducens cranial nerve palsy.

Acquired Duane's syndrome is a rare event occurring after peripheral nerve palsy.^[10]

Treatment

The majority of patients remain symptom free and able to maintain binocularity with only a slight face turn. Amblyopia is uncommon and, where present, rarely dense. This can be treated with occlusion, and any refractive error can also be corrected.

Duane syndrome cannot be cured, as the "missing" cranial nerve cannot be replaced, and traditionally there has been no expectation that surgery will result in any increase in the range of eye movement. Surgical intervention, therefore, has only been recommended where the patient is unable to maintain binocularity, where they are experiencing symptoms, or where they are forced to adopt a cosmetically unsightly or uncomfortable head posture in order to maintain binocularity. The aims of surgery are to place the eye in a more central position and, thus, place the field of binocularity more centrally also, and to overcome or reduce the need for the adoption of an abnormal head posture. Occasionally, surgery is not needed during childhood, but becomes appropriate later in life, as head position changes (presumably due to progressive muscle contracture).

Surgical approaches include:

Medial rectus recession in the involved eye or both eyes. By weakening the medical rectus muscles this procedure improves the crossed-eye appearance but does not improve outward eye movements (abductions).

Morad et al. showed improved abduction after modest unilateral medial rectus recession and lateral rectus resection in a subgroup of patients with mild eye retraction and good adduction before surgery.^[11]

Lateral transposition of the vertical muscles described by Rosenbaum has been shown to improve range of movement of the eye. The surgical procedure produces 40-65 degrees of binocular field. Orbital wall fixation of the lateral rectus muscle (muscle is disinserted and reattached to lateral orbital wall) is recommended an effective method to inactivate a lateral rectus muscle in cases of marked anomalous innervation and severe cocontraction.^[12]

References

^ Duane A (1905). "Congenital Deficiency of Abduction associated with impairment of adduction, retraction movements, contraction of the palpebral fissure and oblique movements of the eye". Archives of ophthalmology (Chicago) 34: 133–50.
^ ^a ^b "Learning About Duane Syndrome". Retrieved 2007-06-06.
^ Mein, J.; Trimble, R. (1991). Diagnosis and management of ocular motility disorders (2nd ed.). Blackwells.
^ ^a ^b ^c Myron Yanoff, Jay S. Duker (2009). Ophthalmology (3rd ed.). Mosby Elsevier. pp. 1333–1334. ISBN 9780323043328.
^ Alexandrakis G, Saunders RA (September 2001). "Duane retraction syndrome". Ophthalmol Clin North Am 14 (3): 407–17. doi:10.1016/S0896-1549(05)70238-8. PMID 11705140.
^ Hotchkiss MG, Miller NR, Clark AW, Green WR (May 1980). "Bilateral Duane's retraction syndrome. A clinical-pathologic case report". Arch. Ophthalmol. 98 (5): 870–4. doi:10.1001/archopht.1980.01020030864013. PMID 7378011.
^ Yang MM, Ho M, Lau HH, Tam PO, Young AL, Pang CP, Yip WW, Chen L (2013) Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome. Mol Vis 19:986-994
^ Mehel E, Quére MA, Lavenant F, Pechereau A (1996). "[Epidemiological and clinical aspects of Stilling-Turk-Duane syndrome]". J Fr Ophtalmol (in French) 19 (8–9): 533–42. PMID 8944136.
^ Brown HW (1950). "Congenital structural muscle anomalies". In Allen JH. Starbismus Ophthalmic Symposium. St Louis: Mosby. pp. 205–36.
^ ^a ^b Emmett T. Cunningham, Paul Riordan-Eva. Vaughan & Asbury's general ophthalmology. (18th ed.). McGraw-Hill Medical. pp. 245, 291. ISBN 978-0071634205.
^ Morad, Y; Kraft, SP; Mims JL, 3rd (June 2001). "Unilateral recession and resection in Duane syndrome". Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 5 (3): 158–63. doi:10.1067/mpa.2001.114187. PMID 11404742. Cite uses deprecated parameters (help)
^ Rosenbaum, AL (October 2004). "Costenbader Lecture. The efficacy of rectus muscle transposition surgery in esotropic Duane syndrome and VI nerve palsy". Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 8 (5): 409–19. doi:10.1016/j.jaapos.2004.07.006. PMID 15492732.

External links

Review article on Duane's syndrome
Duanes Syndrome at eMedicine
Animation at mrcophth.com

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 小児における水平斜視の原因 causes of horizontal strabismus in children
2. 小児における斜視の評価およびマネージメント evaluation and management of strabismus in children
3. 小児における垂直斜視の原因 causes of vertical strabismus in children
4. 視神経の先天性および後天性異常 congenital anomalies and acquired abnormalities of the optic nerve
5. 自己免疫性溶血性貧血の臨床的特徴および診断：温暖凝集素 clinical features and diagnosis of autoimmune hemolytic anemia warm agglutinins

English Journal

Cranial nerve palsies in childhood.

Lyons CJ1, Godoy F1, ALQahtani E1.
Eye (London, England).Eye (Lond).2015 Jan 9. doi: 10.1038/eye.2014.292. [Epub ahead of print]
We review ocular motor cranial nerve palsies in childhood and highlight many of the features that differentiate these from their occurrence in adulthood. The clinical characteristics of cranial nerve palsies in childhood are affected by the child's impressive ability to repair and regenerate after i
PMID 25572578

Does infantile abduction deficit indicate duane retraction syndrome until disproven?

Kim JH1, Hwang JM2.
Journal of child neurology.J Child Neurol.2014 Nov;29(11):NP151-3. doi: 10.1177/0883073813513331. Epub 2014 Jan 21.
Duane retraction syndrome consists of abduction deficit and palpebral fissure narrowing, upshoots, or downshoots on adduction. Infants with abduction deficit should be considered to have Duane retraction syndrome until disproven, because congenital abducens nerve palsy is extremely rare. The abducen
PMID 24453144

[Medial rectus tendon elongation with bovine pericardium for type 1 Duane's retraction syndrome].

Hedergott AM1, Fricke J1, Neugebauer A1.
Klinische Monatsblätter für Augenheilkunde.Klin Monbl Augenheilkd.2014 Oct;231(10):980-7. doi: 10.1055/s-0034-1383070. Epub 2014 Oct 21.
BACKGROUND: Some patients with esotropic Duane's retraction syndrome (type 1) adopt a head turn to gain binocular vision. For some patients recession of the ipsilateral medial rectus muscle is not sufficient to eliminate head turn and squint angle. Surgery with tendon elongation allows the correctio
PMID 25333233

Japanese Journal

蝸牛形成不全を合併した Duane 症候群の一症例

芦澤圭,田渕経司,中山雅博,原晃
Otology Japan 19(5), 672-675, 2009-12-25
… Duane症候群（眼球後退症候群）は外転障害と内転時の眼球後退、瞼裂狭小を特徴とする先天性眼球運動障害で、外転神経核の欠損が原因と考えられている。 … Duane症候群と一側性難聴を合併した41歳男性例を報告した。 … 先天性の眼球運動異常、左難聴を認め、眼球運動所見、CT所見から蝸牛低形成を伴うDuane症候群と診断された。 …
NAID 10026280524

臨床報告 Duane症候群様の眼球後退症を呈した後天性症例

黒川歳雄,柏井聡,宮本和明 [他]
臨床眼科 63(1), 75-79, 2009-01
NAID 40016440959

臨床報告 Duane症候群3型のMRI所見

岡信宏隆,河野玲華,大月洋 [他]
臨床眼科 62(1), 65-69, 2008-01
NAID 40015816901

Related Pictures

★リンクテーブル★

リンク元	「オキヒロ症候群」「デュアン眼球後退症候群」「Duane眼球後退症候群」
関連記事	「retraction」「syndrome」

「オキヒロ症候群」

Duane's syndrome
	Classification and external resources
	Duane Syndrome type I in left eye. 10-year-old girl.
ICD-10	H50.8
ICD-9	378.71
OMIM	126800 604356
DiseasesDB	30810
eMedicine	oph/326
MeSH	D004370
GeneReviews	Duane Syndrome;

　　[★]

英: Okihiro syndrome
同: Okihiro症候群
関: デュアン症候群 Duane syndrome、デュアン眼球後退症候群 Duane retraction syndrome

上肢の形成異常や眼球運動制限を伴う遺伝性疾患

Okihiro syndrome refers to the association of forearm malformations with Duane syndrome of eye retraction.

参考

wiki en

http://en.wikipedia.org/wiki/Duane-radial_ray_syndrome

Okihiro syndrome is caused by SALL4 mutations.

Kohlhase J, Heinrich M, Schubert L, Liebers M, Kispert A, Laccone F, Turnpenny P, Winter RM, Reardon W.
Hum Mol Genet. 2002 Nov 1;11(23):2979-87.
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 mutation of the TBX5 locus and Townes-Brocks syndrome, known to be caused by mutations in the SALL1 gene. Arising from our observation of several malformations in Okihiro syndrome patients which are also described in Townes-Brocks syndrome, we postulated that Okihiro syndrome might result from mutation of another member of the human SALL gene family. We have characterized the human SALL4 gene on chromosome 20q13.13-q13.2. Moreover, we have identified literature reports of forelimb malformations in patients with cytogenetically identifiable abnormalities of this region. We here present evidence in 5 of 8 affected families that mutation at this locus results in the Okihiro syndrome phenotype.
PMID 12393809

「デュアン眼球後退症候群」

　　[★]

英: Duane retraction syndrome
関: デュアン症候群、Duane眼球後退症候群、オキヒロ症候群

「Duane眼球後退症候群」

　　[★]

英: Duane retraction syndrome
関: デュアン眼球後退症候群

「retraction」

　　[★]

n.

(つめなどを)引っ込めること。収縮力
(前言・責任・告発などの)撤回、取り消し。(正式な)撤回の発表。撤回されたこと。

「syndrome」

　　[★]

n.

症候群

[1] Duane A (1905). "Congenital Deficiency of Abduction associated with impairment of adduction, retraction movements, contraction of the palpebral fissure and oblique movements of the eye". Archives of ophthalmology (Chicago) 34: 133–50.

[GenomeGov-2] "Learning About Duane Syndrome". Retrieved 2007-06-06.

[3] Mein, J.; Trimble, R. (1991). Diagnosis and management of ocular motility disorders (2nd ed.). Blackwells.

[yanoff-4] Myron Yanoff, Jay S. Duker (2009). Ophthalmology (3rd ed.). Mosby Elsevier. pp. 1333–1334. ISBN 9780323043328.

[5] Alexandrakis G, Saunders RA (September 2001). "Duane retraction syndrome". Ophthalmol Clin North Am 14 (3): 407–17. doi:10.1016/S0896-1549(05)70238-8. PMID 11705140.

[6] Hotchkiss MG, Miller NR, Clark AW, Green WR (May 1980). "Bilateral Duane's retraction syndrome. A clinical-pathologic case report". Arch. Ophthalmol. 98 (5): 870–4. doi:10.1001/archopht.1980.01020030864013. PMID 7378011.

[Yang2013-7] Yang MM, Ho M, Lau HH, Tam PO, Young AL, Pang CP, Yip WW, Chen L (2013) Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome. Mol Vis 19:986-994

[8] Mehel E, Quére MA, Lavenant F, Pechereau A (1996). "[Epidemiological and clinical aspects of Stilling-Turk-Duane syndrome]". J Fr Ophtalmol (in French) 19 (8–9): 533–42. PMID 8944136.

[9] Brown HW (1950). "Congenital structural muscle anomalies". In Allen JH. Starbismus Ophthalmic Symposium. St Louis: Mosby. pp. 205–36.

[vaughan-10] Emmett T. Cunningham, Paul Riordan-Eva. Vaughan & Asbury's general ophthalmology. (18th ed.). McGraw-Hill Medical. pp. 245, 291. ISBN 978-0071634205.

[11] Morad, Y; Kraft, SP; Mims JL, 3rd (June 2001). "Unilateral recession and resection in Duane syndrome". Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 5 (3): 158–63. doi:10.1067/mpa.2001.114187. PMID 11404742. Cite uses deprecated parameters (help)

[12] Rosenbaum, AL (October 2004). "Costenbader Lecture. The efficacy of rectus muscle transposition surgery in esotropic Duane syndrome and VI nerve palsy". Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 8 (5): 409–19. doi:10.1016/j.jaapos.2004.07.006. PMID 15492732.

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案内

Duane retraction syndrome