Duane Sendromu
Özet
Duane sendromu (DS), horizontal göz hareketlerinin kısıtlanması, addüksiyon sırasında palpebral fissür daralması ve glob retraksiyonu ile karakterize konjenital bir kraniyal disinnervasyon bozukluğudur. 6. kraniyal sinir veya çekirdeğinin hipoplazisi ya da yokluğu nedeniyle lateral rektus kası 3. sinirin aberan bir dalı tarafından innerve edilir; bu durum addüksiyonda ko-kontraksiyona ve anormal vertikal göz hareketlerine yol açar. Hastalık çoğunlukla kadınlarda, sporadik ve tek taraflı (sıklıkla sol gözde) görülürken, %5-10 oranında CHN1 gen mutasyonuyla ilişkili ailesel geçiş gösterir. Huber sınıflandırmasına göre abdüksiyon kısıtlılığı ile karakterize Tip 1 en sık görülen formdur; Tip 2'de addüksiyon, Tip 3'te ise her iki hareket kısıtlıdır. Atipik varyantlar arasında vertikal retraksiyon sendromu, sinerjistik diverjans ve Y patern deviasyon bulunur. Ayırıcı tanıda 6. sinir felci ve Moebius sendromu düşünülmelidir. Tedavide genel ilke zorunlu olmadıkça cerrahi yapılmamasıdır; ambliyopi takibi, optik düzeltme ve kapama tedavisi uygulanır. Cerrahi endikasyonlarda anormal baş pozisyonunu düzeltmek, şaşılığı gidermek ve glob retraksiyonu ile aşırı atımları hafifletmek amaçlanır. Bu doğrultuda ezotropik vakalarda horizontal/vertikal kas cerrahileri (medial rektus resesyonu, SRT) uygulanırken, ekzotropik vakalarda lateral rektus resesyonu tercih edilir. Glob retraksiyonunda büyük miktarlı horizontal resesyonlar, mekanik aşırı atımlarda ise Y splitting gibi prosedürler kullanılır. Tam düzelme sağlanamasa da kişiselleştirilmiş tedavilerle tatmin edici sonuçlar elde edilmektedir.
Duane syndrome (DS) is a congenital cranial dysinnervation disorder characterized by limitation of horizontal eye movements, narrowing of the palpebral fissure, and globe retraction during adduction. Due to the congenital hypoplasia or absence of the sixth cranial nerve or its nucleus, the lateral rectus muscle is innervated by an aberrant branch of the third cranial nerve, causing co-contraction of the medial and lateral rectus muscles during adduction, which leads to abnormal vertical movements such as upshoots or downshoots. While mostly sporadic, unilateral, and more common in females and left eyes, an autosomal dominant familial transmission associated with CHN1 gene mutations occurs in 5-10% of cases. According to Huber's classification, Type 1, where abduction is defective, is the most common form, whereas Type 2 limits adduction and Type 3 restricts both movements. Atypical variants include vertical retraction syndrome, synergistic divergence, and Y pattern deviation, while differential diagnosis involves sixth nerve palsy and Moebius syndrome. Management relies on conservative follow-up for amblyopia and refractive errors unless surgery is strictly indicated to eliminate abnormal head posture, reduce strabismus, or alleviate globe retraction and overshoots. Surgical interventions are tailored individually, utilizing medial rectus recessions or superior rectus transpositions in esotropic DS, lateral rectus recessions in exotropic DS, large horizontal recessions for globe retraction, and specialized techniques like Y-splitting for mechanical overshoots, yielding satisfactory functional outcomes despite the impossibility of complete cure.
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