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Journals / Türk Oftalmoloji Dergisi / 2014 / Cilt: 44 - Sayı: 4

Congenital fibrosis of the extraocular muscles

Konjenital ekstraoküler kas fibrozisi

Ertuğrul CAN
Leyla NİYAZ
Pages
312–315
Publication Date
2022-11-03
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Surgery is the primary treatment option for strabismus and blepharoptosis. (Turk J Ophthalmol 2014; 44: 312-5)

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Congenital fibrosis of the extraocular muscles (CFEOM) is a rare disorder characterized by hereditary non-progressive restrictive strabismus and blepharoptosis.
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Key Findings & Data:CFEOM is divided into three groups as CFEOM 1, 2, and 3 according to the phenotype.
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Conclusion & Impact:Surgery is the primary treatment option for strabismus and blepharoptosis. (Turk J Ophthalmol 2014; 44: 312-5)
🔬Design:Research Article
📍Scope:2014 Verileri
⚙️Variables:Domain Parameters

Abstract

Congenital fibrosis of the extraocular muscles (CFEOM) is a rare disorder characterized by hereditary non-progressive restrictive strabismus and blepharoptosis. Although most of the cases are bilateral and isolated, some patients may have systemic findings. CFEOM is divided into three groups as CFEOM 1, 2, and 3 according to the phenotype. Primary responsible genes are KIF21A for CFEOM type 1 and 3 and PHOX2A/ARIX gene for CFEOM type 2. Studies suggest that abnormal innervation of the extraocular muscles is the cause of muscle fibrosis. Early treatment is important because of the risk of amblyopia. Surgery is the primary treatment option for strabismus and blepharoptosis. (Turk J Ophthalmol 2014; 44: 312-5)

Özet

Konjenital ekstraoküler kas fibrozisi (KEOKF) nadir görülen kalıtsal ve ilerleyici olmayan restriktif şaşılık ve kapak pitozu ile karakterize bir durumdur. Olguların çoğu iki taraflı ve izole olmasına rağmen bazı olgularda sistemik bulgular eşlik etmektedir. Klinik görünüm olarak KEOKF üç gruba ayrılmaktadır: KEOKF 1, 2 ve 3. Başlıca sorumlu genler KEOKF tip 1 ve 3 için KIF21A ve KEOKF tip 2 için PHOX2A/ARIX genleridir. Çalışmalar, kas fibrozisine ekstraoküler kasların anormal innervasyonunun neden olduğunu göstermektedir. Ambliyopi riski nedeniyle erken tedavi önemlidir. Kaymanın ve pitozun primer tedavisi cerrahidir. (Turk J Ophthalmol 2014; 44: 312-5)

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Cite This Article

CAN, E., NİYAZ, L. (2022). Congenital fibrosis of the extraocular muscles. Türk Oftalmoloji Dergisi, Cilt: 44 - Sayı: 4, 312–315. https://ajindex.com/articles/638050

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