Year 2018, Volume 3, Issue 1, Pages 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.

  • 1. Lachmann HJ, Sengul B, Yavuzsen TU, et al. Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology. 2006;45(6):746-750. doi: https://doi.org/10.1093/rheumatology/kei279
  • 2. Ikuno Y, Kawaguchi K, Nouchi T, et al. Choroidal thickness in healthy Japanese subjects. Invest Ophthalmol Vis Sci. 2010;51(4):2173-2176. doi: https://doi.org/10.1167/iovs.09-4383
  • 3. Ersan I, Battal F, Aylanc H, et al. Noninvasive assessment of the retina and the choroid using enhanced-depth imaging optical coherence tomography shows microvascular impairments in childhood obesity. J AAPOS 2016;20(1):58-62. doi: https://doi.org/10.1016/j.jaapos.2015.10.006.
  • 4. Akalin T, Demirag MD, Tezcan ME, et al. Scleritis and sudden hearing loss associated with familial Mediterranean fever. Clin Exp Rheumatol 2010;28(4 Suppl 60):S103-4.5. PMID:20868588
  • 5. Akman A, Varan B, Akova YA, et al. Ocular involvement in siblings with familial mediterranean fever. J Pediatr Ophthalmol Strabismus 2000;38(2):114-116. PMID:11310705
  • 6. Berestizschevsky S, Weinberger D, Avisar I, R. Avisar Episcleritias associated with familial Mediterranean fever. IMAJ. 2008;10(4):318-319. PMID:18548993
  • 7. Ozaltin F, Bakkaloglu A, Orhon M, et al. Bilateral uveitis in a 7-year-old patient with familial Mediterranean fever. An extremely rare complication. Clin Exp Rheumatol. 2001;19(5 Suppl 24):S80-1. PMID:11760412
  • 8. Finsterer J, Stöllberger C, Shinar Y. Cranial nerve lesions and abnormal visually evoked potentials associated with the M694V mutation in familial Mediterranean fever. Clin Rheumatol 2002;21(4):317-321. doi: https://doi.org/10.1007/s100670200083
  • 9. Direskeneli H, Ozdogan H, Korkmaz C, et al. Serum soluble intercellular adhesion molecule 1 and interleukin 8 levels in familial Mediterranean fever. J Rheumatol 1999;26:1983–1986. PMID:10493680
  • 10. Baykal Y, Saglam K, Yilmaz M I, et al. Serum sIL-2r, IL-6,IL-10 and TNF-alpha level in familial Mediterranean fever patients. Clin Rheumatol 2003;22:99–101. doi: https://doi.org/10.1007/s10067-002-0682-1
  • 11. Zorena K, Myśliwska J, Myśliwiec M, et al. Serum TNF-alpha level predicts nonproliferative diabetic retinopathy in children. Mediators Inflamm 2007;2007:92169. doi: https://doi.org/10.1155/2007/92196
  • 12. Sawada H, Fukuchi T, Tanaka T, et al. Tumor necrosis factor-alpha concentrations in the aqueous humor of patients with glaucoma. Invest Ophthalmol Vis Sci 2010;51:903–906. doi: https://doi.org/10.1167/iovs.09-4247
  • 13. Nakazawa T, Nakazawa C, Matsubara A, et al. Tumor necrosis factor-alpha mediates oligodendrocyte death and delayed retinal ganglion cell loss in a mouse model of glaucoma. J Neurosci 2006;26:12633–12641. doi: https://doi.org/10.1523/JNEUROSCI.2801-06.2006
  • 14. Sugita S, Takase H, Taguchi C, et al. The role of soluble TNF receptors for TNF-alpha in uveitis. Invest Ophthalmol Vis Sci 2007;48:3246–3252. doi: https://doi.org/10.1167/iovs.06-1444
  • 15. Erdurmus M, Bekdas M, Demircioglu F, et al. Retinal and choroidal thickness in children with familial Mediterranean fever. Ocul Immunol Inflamm 2014;22(6):444-448. doi: https://doi.org/10.3109/09273948.2014.916309
  • 16. Gundogan FC, Akay F, Uzun S, et al. Choroidal Thickness Changes in the Acute Attack Period in Patients with Familial Mediterranean Fever. Ophthalmologica 2016;235(2):72-77. doi: https://doi.org/10.1159/000442216
  • 17. Turk A, Ceylan OM, Arici C, et al. Evaluation of the nerve fiber layer and macula in the eyes of healthy children using spectral-domain optical coherence tomography. Am J Ophthalmol 2012;153(3):552-559. doi: https://doi.org/10.1016/j.ajo.2011.08.026
  • 18. Baykal Y, Saglam K, Yilmaz M I, et al. Serum sIL-2r, IL-6,. Serum sIL-2r, IL-6, IL-10 and TNF-alpha level in familial Mediterranean fever patients. Clin Rheumatol 2003;22(2):99-101. doi: https://doi.org/10.1007/s10067-002-0682-1
  • 19. El-Dairi MA, Asrani SG, Enyedi LB, et al. Optical coherence tomography in the eyes of normal children. Arch Ophthalmol 2009;127(1):50-58. doi: https://doi.org/10.1001/archophthalmol.2008.553
  • 20. Birlik M, Tunca M, Hizli N, et al. Coexistence of familial Mediterranean fever with sacroiliitis and Behçet's disease: a rare occurrence. Clin Rheumatol 1998;17(5):397-399. PMID:9805187
  • 21. Schwartz T, Langevitz P, Zemer D, et al. Behçet's disease in Familial Mediterranean fever: characterization of the association between the two diseases. Semin Arthritis Rheum 2000;29(5):286-295. PMID:10805353
  • 22. Tekin M, Yalcinkaya F, Tumer N, et al. Clinical, laboratory and molecular characteristics of children with Familial Mediterranean Fever-associated vasculitis. Acta Paediatr 2000;89(2):177-182. doi: https://doi.org/10.1111/j.1651-2227.2000.tb01212.x
Primary Language en
Subjects Health Care Sciences and Services
Published Date Apr 2018
Journal Section Original Research
Authors

Orcid: 0000-0001-9040-7880
Author: Fatih Battal
Institution: Canakkale Onsekiz Mart University, School of Medicine, Department of Pediatrics, Canakkale
Country: Turkey


Orcid: 0000-0002-8907-3809
Author: Hakan Aylanc (Primary Author)
Institution: Canakkale Onsekiz Mart University, School of Medicine, Department of Pediatrics, Canakkale
Country: Turkey


Orcid: 0000-0001-5020-8705
Author: Sule Yildirim
Institution: Canakkale Onsekiz Mart University, School of Medicine, Department of Pediatrics, Canakkale
Country: Turkey


Orcid: 0000-0002-6196-0908
Author: Yeliz Ekim
Institution: Canakkale Onsekiz Mart University, School of Medicine, Department of Ophthalmology, Canakkale
Country: Turkey


Orcid: 0000-0001-7191-2240
Author: Fatma Silan
Institution: Canakkale Onsekiz Mart University, School of Medicine, Department of Medical Genetics, Canakkale
Country: Turkey


Orcid: 0000-0003-1057-3235
Author: Ozturk Ozdemir
Institution: Canakkale Onsekiz Mart University, School of Medicine, Department of Medical Genetics, Canakkale
Country: Turkey


Bibtex @research article { 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 = {Battal, Fatih and Aylanc, Hakan and Yildirim, Sule and Ekim, Yeliz and Silan, Fatma and Ozdemir, Ozturk} }
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 - https://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 . "Macular and choroidal thickness of children with Familial Mediterranean Fever gene mutation". FAMILY PRACTICE AND PALLIATIVE CARE 3 / 1 (April 2018): 23-27. https://doi.org/10.22391/fppc.368676