Syndrome

BASICS


DESCRIPTION


• A congenital eye movement disorder characterized primarily by abduction deficiency, associated with globe retraction and palpebral fissure narrowing on attempted adduction as well as possible adduction limitation.


• Type I. Marked limitation or complete absence of abduction, normal or only slightly restricted adduction.


• Type II. Limitation or absence of adduction with exotropia of the affected eye. Normal or slightly limited abduction.


• Type III. Severe limitation of both abduction and adduction.


EPIDEMIOLOGY


Incidence


• Found in approximately 1% of individuals with strabismus


– More frequently


– More common in females


– Bilateral less frequent


Prevalence


Unknown


RISK FACTORS


• Thalidomide ingestion during first trimester


• Associated with some specific syndromes


Genetics


• Two genes known to be causative when mutated: CPAH (carboxypeptidase, 8q12–13, DURS1) and CHN1 (alpha2 chimerin, 2q31–32, DURS2). Both autosomal dominant. DURS2 80% type 1 Duane and 20% type 3


• DURS1 can also be involved in contiguous gene deletion syndrome: branchio-oto-renal syndrome overexpression, 80% type 1, 20% type 3


• Other loci noted based on chromosomal aberrations: del4q27–31, 22pter-q11 (marker chromosome), trisomy 8, del1q42.13–43 (with abnormal cerebellum)


• Duane + radial ray (Okihiro syndrome) +/– hearing/heart/renal/absent thumbs due to mutations in SALL4 (20q13.2). Autosomal dominant. Also causes IVIC syndrome = thrombocytopenia + radial ray defect + hearing loss


• Duane + anal abnormalities + renal + ear + thumb abnormalities and occasional cataract, coloboma, optic atrophy, limbal dermoid (Town Brocks syndrome) due to mutation in SALL1 (16q12.1). Autosomal dominant


GENERAL PREVENTION


None


PATHOPHYSIOLOGY


• Various theories include structural and innervational anomalies of the extraocular muscles as well as absence or hypoplasia of the sixth nerve nucleus.


• Up and down shoots and globe retraction due to coinnervation of the horizontal and vertical rectus muscles or, for the former, slippage of the lateral rectus muscle above or below the eye, commonly referred to as a “leash phenomenon.”


ETIOLOGY


• Considered as one of the congenital cranial dysinnervation disorders (CCDD)


• Embryologic field defect involving branchial arches particularly when associated with Klippel-Feil anomaly, oculo-auriculo-vertebral spectrum (e.g., Goldenhar), hearing loss, and Wildervanck syndrome.


COMMONLY ASSOCIATED CONDITIONS


• Congenital labyrinthine hearing loss


• Amblyopia


• Anomalous head position (face turn) Strabismus in primary position


DIAGNOSIS


HISTORY


Child presents with an eye that does not appear to abduct and history of possible esotropia.


PHYSICAL EXAM


• Absence of abduction with possible limitation of adduction, retraction of globe in attempted adduction, and up and down shooting or both in adduction


• Full ocular examination with attention in particular to amblyopia and possible face turn


• Ocular anomalies may include dysplasia of the iris stroma, pupillary anomalies, cataract, heterochromia, Marcus Gunn jaw winking, coloboma, crocodile tears, and microphthalmos.


• Full physical examination for associated systemic abnormalities


• Consider audiology especially if speech delay or malformation of external ears


DIAGNOSTIC TESTS & INTERPRETATION


Lab


None


Imaging


None


Follow-up & special considerations

• Cine-MRI has been used to characterize upshoot and downshoot movement


• High resolution MRI of brain may identify associated malformation or abnormalities of sixth cranial nerve and its nucleus


Diagnostic Procedures/Other


Consider audiology


Pathological Findings


Autopsy findings include hypoplasia or aplasia of sixth cranial nerve


DIFFERENTIAL DIAGNOSIS


• Sixth Nerve Palsy


• Congenital Esotropia


• Exotropia


• Orbital fracture, tumor, or restrictive infiltrative process


TREATMENT


MEDICATION


None


ADDITIONAL TREATMENT


General Measures


Before surgery is contemplated, coexisting significant refractive errors, anisometropia, and amblyopia should be treated.


Issues for Referral


Consider genetic consult if other malformations present or genetic testing desired.


Additional Therapies


• Occlusion or penalization therapy for amblyopia


• Glasses for refractive error


COMPLEMENTARY & ALTERNATIVE THERAPIES


None


SURGERY/OTHER PROCEDURES


• Indications for surgery include:


– 1. Significant deviation in primary position.


– 2. Anomalous head position.


– 3. Large up or down shoot or retraction of the globe that is cosmetically intolerable.


• Surgery usually involves recession of the medial or lateral rectus for patients with esotropia of exotropia. Some surgeons prefer transposition surgery. The medial rectus of the involved eye is usually tight and forced duction testing is often positive because of the contracture of the muscle.


• Resection of the ipsilateral lateral rectus should almost never be performed because it will increase retraction of the globe in adduction.


• If an up or down shoot of the eye occurs, surgical options include recessing a stiff, fibrotic lateral rectus muscle, performing a Y-splitting of the muscle or placement of a posterior fixation suture to reduce the leash effect when present.


• Patients who suffer from a cosmetically noticeable retraction of the globe in attempted adduction may benefit from recession of both horizontal recti to reduce the co-contraction. This can be done in the absence of a deviation in primary gaze or adjusted to eliminate a deviation if present.


IN-PATIENT CONSIDERATIONS


None


ONGOING CARE


FOLLOW-UP RECOMMENDATIONS


Follow the child for the development of amblyopia, strabismus in the primary position, or a face turn.


Patient Monitoring


Periodic for assessment of vision and alignment


PATIENT EDUCATION


www.experienceproject.com/groups/Have-Duane-Syndrome/97737


health.groups.yahoo.com/group/duanes/


PROGNOSIS


• Surgery can help to reduce or eliminate an associated face turn.


• Few patients show improvement in abduction following surgery and some patients undergoing medial rectus recession may have a decrease in adduction. In patients with significant co-contraction, large over-corrections can occur following medial rectus recession.


• Excellent prognosis for vision if amblyopia and refractive error addressed


• Surgical results can be very satisfactory.


COMPLICATIONS


• Recession of the medial rectus more than 6 mm may cause consecutive exotropia.


• Amblyopia


ADDITIONAL READING


• Isenberg S, Urist MJ. Clinical observations in 101 consecutive patients with Duane’s retraction syndrome. Am J Ophthalmol 1972;84:419.


• Jampolsky A. Duane syndrome. In: Rosenbaum AL, Santiago AP, eds. Clinical strabismus management: Principles and surgical techniques. Philadelphia: Saunders, 1999:325–346.


CODES


ICD9


378.71 Duane’s syndrome


CLINICAL PEARLS


• Most children with Duane syndrome have no strabismus in the primary straight ahead position.


• Duane syndrome does not usually worsen with age.


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Nov 9, 2016 | Posted by in OPHTHALMOLOGY | Comments Off on Syndrome
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