Yıl 2018, Cilt 3, Sayı 1, Sayfalar 23 - 27 2018-04-19

Macular and choroidal thickness of children with Familial Mediterranean Fever gene mutation
Ailevi Akdeniz Ateşi gen mutasyonu olan çocuklarda makula ve koroid kalınlıkları

Fatih Battal [1] , Hakan Aylanc [2] , Sule Yildirim [3] , Yeliz Ekim [4] , Fatma Silan [5] , Ozturk Ozdemir [6]

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Introduction: The present study aimed to evaluate macular and choroidal thicknesses in children with MEFV gene mutations.

Methods: Thirty-five children with MEFV gene mutations and 40 healthy controls were included in the study. MEFV gene profiles for the current cohort were genotyped by Pyrosequencing and direct Sanger sequencing techniques. The thicknesses of the macular and choroid of each subject’s right eye were measured using spectral-domain optic coherence tomography.

Results: Mean arteriolar and venular diameters were 95.75±11.98 µm and 127.61±10.44 µm in children with the MEFV gene mutations and 110.19±11.10 µm and 138.54±10.04 µm in control group respectively. Children with the MEFV gene mutations were found to have a significantly less mean arteriolar diameter (p<0.001), mean venular diameter (p<0.001), less macular thickness (p=0.016), and less choroidal thickness (p=0.014) compared to healthy controls.

Conclusion: Children with the MEFV gene mutations had narrowing of the retinal arterioles, retinal venules, and macular and choroidal thinning. Future studies should aim to investigate endothelial dysfunction in children with Familial Mediterranean Fever by non-invasive and effective methods.

Giriş: Bu çalışmanın amacı, MEFV gen mutasyonlu çocuklarda maküla ve koroid kalınlıklarının değerlendirilmesidir.
Yöntem: MEFV gen mutasyonlu 35 çocuk ve kontrol grubu olarak 40 sağlıklı çocuk çalışmaya alındı. MEFV gen profilleri Pyrosequencing ve direct Sanger sequencing sekanslama teknikleri ile genotiplendirildi. Her bir hastanın sağ göz maküla ve koroid kalınlıkları spektral-alan optik koherens tomografi kullanılarak ölçüldü.

Bulgular: Ortalama arteriolar ve venüler çaplar  sırasıyla MEFV gen mutasyonu olan çocuklarda  95,75±11,98 µm ve  127,61±10,44 µm, kontrol grupta 110,19±11,10 µm ve 138,54±10,04 µm idi. MEFV gen mutasyonu olan çocuklarda sağlıklı kontrollere göre ortalama arteryol çapları (p<0,001), ortalama venüler çapları (p<0,001) daha ince idi ayrıca maküler kalınlık (p=0,016) ve koroid kalınlık (p=0,014) azalmıştı.

Sonuç: MEFV gen mutasyonları olan çocuklarda retinal arteriyollerin, retinal venüllerin ve maküler ve koroidal incelmenin olduğu görüldü. Gelecekteki çalışmalar, Ailesel Akdeniz Ateşi olan çocuklarda endotel disfonksiyonunu invazif olmayan ve etkili yöntemlerle araştırmayı amaçlamalıdır.

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Birincil Dil en
Konular Sağlık Bilimleri ve Hizmetleri
Yayımlanma Tarihi Apr 2018
Dergi Bölümü Araştırma Makalesi (Original Article)
Yazarlar

Orcid: 0000-0001-9040-7880
Yazar: Fatih Battal
Kurum: Canakkale Onsekiz Mart University, School of Medicine, Department of Pediatrics, Canakkale
Ülke: Turkey


Orcid: 0000-0002-8907-3809
Yazar: Hakan Aylanc (Sorumlu Yazar)
Kurum: Canakkale Onsekiz Mart University, School of Medicine, Department of Pediatrics, Canakkale
Ülke: Turkey


Orcid: 0000-0001-5020-8705
Yazar: Sule Yildirim
Kurum: Canakkale Onsekiz Mart University, School of Medicine, Department of Pediatrics, Canakkale
Ülke: Turkey


Orcid: 0000-0002-6196-0908
Yazar: Yeliz Ekim
Kurum: Canakkale Onsekiz Mart University, School of Medicine, Department of Ophthalmology, Canakkale
Ülke: Turkey


Orcid: 0000-0001-7191-2240
Yazar: Fatma Silan
Kurum: Canakkale Onsekiz Mart University, School of Medicine, Department of Medical Genetics, Canakkale
Ülke: Turkey


Orcid: 0000-0003-1057-3235
Yazar: Ozturk Ozdemir
Kurum: Canakkale Onsekiz Mart University, School of Medicine, Department of Medical Genetics, Canakkale
Ülke: Turkey


Bibtex @araştırma makalesi { fppc368676, journal = {FAMILY PRACTICE AND PALLIATIVE CARE}, issn = {2458-8865}, eissn = {2459-1505}, address = {SERNEV}, year = {2018}, volume = {3}, pages = {23 - 27}, doi = {10.22391/fppc.368676}, title = {Macular and choroidal thickness of children with Familial Mediterranean Fever gene mutation}, key = {cite}, author = {Ekim, Yeliz and Yildirim, Sule and Ozdemir, Ozturk and Aylanc, Hakan and Silan, Fatma and Battal, Fatih} }
APA Battal, F , Aylanc, H , Yildirim, S , Ekim, Y , Silan, F , Ozdemir, O . (2018). Macular and choroidal thickness of children with Familial Mediterranean Fever gene mutation. FAMILY PRACTICE AND PALLIATIVE CARE, 3 (1), 23-27. DOI: 10.22391/fppc.368676
MLA Battal, F , Aylanc, H , Yildirim, S , Ekim, Y , Silan, F , Ozdemir, O . "Macular and choroidal thickness of children with Familial Mediterranean Fever gene mutation". FAMILY PRACTICE AND PALLIATIVE CARE 3 (2018): 23-27 <http://www.fppc.com.tr/issue/36461/368676>
Chicago Battal, F , Aylanc, H , Yildirim, S , Ekim, Y , Silan, F , Ozdemir, O . "Macular and choroidal thickness of children with Familial Mediterranean Fever gene mutation". FAMILY PRACTICE AND PALLIATIVE CARE 3 (2018): 23-27
RIS TY - JOUR T1 - Macular and choroidal thickness of children with Familial Mediterranean Fever gene mutation AU - Fatih Battal , Hakan Aylanc , Sule Yildirim , Yeliz Ekim , Fatma Silan , Ozturk Ozdemir Y1 - 2018 PY - 2018 N1 - doi: 10.22391/fppc.368676 DO - 10.22391/fppc.368676 T2 - FAMILY PRACTICE AND PALLIATIVE CARE JF - Journal JO - JOR SP - 23 EP - 27 VL - 3 IS - 1 SN - 2458-8865-2459-1505 M3 - doi: 10.22391/fppc.368676 UR - http://dx.doi.org/10.22391/fppc.368676 Y2 - 2018 ER -
EndNote %0 FAMILY PRACTICE AND PALLIATIVE CARE Macular and choroidal thickness of children with Familial Mediterranean Fever gene mutation %A Fatih Battal , Hakan Aylanc , Sule Yildirim , Yeliz Ekim , Fatma Silan , Ozturk Ozdemir %T Macular and choroidal thickness of children with Familial Mediterranean Fever gene mutation %D 2018 %J FAMILY PRACTICE AND PALLIATIVE CARE %P 2458-8865-2459-1505 %V 3 %N 1 %R doi: 10.22391/fppc.368676 %U 10.22391/fppc.368676
ISNAD Battal, Fatih , Aylanc, Hakan , Yildirim, Sule , Ekim, Yeliz , Silan, Fatma , Ozdemir, Ozturk . "Ailevi Akdeniz Ateşi gen mutasyonu olan çocuklarda makula ve koroid kalınlıkları". FAMILY PRACTICE AND PALLIATIVE CARE 3 / 1 (Nisan 2018): 23-27. http://dx.doi.org/10.22391/fppc.368676