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Journals / Retina-Vitreus / 2015 / Cilt: 23 - Sayı: 4

Evaluation of a Case of Kearns-Sayre Syndrome

Kearns-Sayre Sendromlu Bir Olgunun Değerlendirilmesi

Sami TOYRAN
Fahrettin AKAY
Eylem ÇAĞILTAY
Murat ATALAY
Ahmet BAKIR
Pages
353–356
DOI
—
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AI Summary & Key Takeaways

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

Because of this, for reducing the morbidity and mortality, rare diseases like KSS should be diagnosed properly

📌 3 Key Takeaways

🎯
Objective & Hypothesis:In this study, we want to report a Kearns-Sayre Syndrome (KSS) case with a mitochondrial myopathy diagnosis on muscle biopsy with ophthalmologic findings.
📊
Key Findings & Data:KSS is a mitochondrial DNA (mtDNA) deletion resulting diminished oxidative phosphorilation and decreased ATP production.
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Conclusion & Impact:Because of this, for reducing the morbidity and mortality, rare diseases like KSS should be diagnosed properly
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

In this study, we want to report a Kearns-Sayre Syndrome (KSS) case with a mitochondrial myopathy diagnosis on muscle biopsy with ophthalmologic findings. KSS is a mitochondrial DNA (mtDNA) deletion resulting diminished oxidative phosphorilation and decreased ATP production. Our patient is 27 years old with the complaints of progressive pitosis on both eyes and limitations of eye movements from the age of four. He declares being operated for three times because of congenital pitosis. Ophtalmologic examination revealed right pitosis, bilateral external ophtalmoplegia and atypical pigmentery retinopathy. Our patient has been diagnosed mitochondrial myopathy and has been consulted with cardiology. Electrocardiogram showed mean 64 beats/minute, sinus rhythm, PR interval 0.18 seconds and bifascicular block (right bundle block with left anterior fascicular block). Mitochondrial diseases are very rare and may present with the ophthalmologic findings as the first sign. Because of this, for reducing the morbidity and mortality, rare diseases like KSS should be diagnosed properly

Özet

Bu çalışmada kas biyopsisinde mitokondriyal miyopati tanısı konan bir Kearns-Sayre Sendromu (KSS) vakasını göz bulgularıyla beraber rapor etmek istiyoruz. KSS, bozulmuş oksidatif fosforilasyon ve azalmış ATP üretimine yol açan mitokondriyal DNA (mtDNA) delesyonudur.1 Hastamız 27 yaşında olup, 4 yaşından beri her iki gözde progresif olarak artan pitoz ve göz hareketlerinde kısıtlılıktan yakınmaktaydı. Konjenital ptoz nedeniyle üç defa opere edildiği ifade edilmektedir. Oftalmik muayenede sağ pitoz, bilateral eksternal oftalmopleji ve atipik pigmenter retinopati tespit edilmiştir. Ayrıca mitokondriyal diyabet tanısı konan hastamız kardiyoloji servisince konsulte edildi. Elektrokardiyogram ortalama 64 atım/dak. sinus ritmi, PR intervali 0.18 sn. ve bifasiküler blok (sol anterior fasiküler bloklu sağ dal bloğu) gösterdi. Mitokondriyal hastalıklar çok nadirdir ve ilk bulgularını göz ve çevresinde verebilir. Bu nedenle morbidite ve mortaliteyi azaltmak için KSS gibi nadir hastalıklar gözden kaçırılmamalıdır

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Cite This Article

TOYRAN, S., AKAY, F., ÇAĞILTAY, E., ATALAY, M., BAKIR, A. (2015). Evaluation of a Case of Kearns-Sayre Syndrome. Retina-Vitreus, Cilt: 23 - Sayı: 4, 353–356. https://ajindex.com/articles/305031

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