Macular and choroidal thickness of children with Familial Mediterranean Fever gene mutation

Fatih BATTAL; Hakan AYLANC; Sule YİLDİRİM; Yeliz EKİM; Fatma SİLAN; Ozturk OZDEMİR

doi:10.22391/fppc.368676

Research Article

Ailevi Akdeniz Ateşi gen mutasyonu olan çocuklarda makula ve koroid kalınlıkları

Year 2018, Volume 3, Issue 1, 23 - 27, 19.04.2018

Fatih BATTAL Hakan AYLANC Sule YİLDİRİM Yeliz EKİM Fatma SİLAN Ozturk OZDEMİR

https://doi.org/10.22391/fppc.368676

Cited By: 1

Abstract

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.

Keywords

Çocuk, koroid, maküler kalınlık, Ailevi Akdeniz Ateşi

References

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

Macular and choroidal thickness of children with Familial Mediterranean Fever gene mutation

Year 2018, Volume 3, Issue 1, 23 - 27, 19.04.2018

Fatih BATTAL Hakan AYLANC Sule YİLDİRİM Yeliz EKİM Fatma SİLAN Ozturk OZDEMİR

https://doi.org/10.22391/fppc.368676

Cited By: 1

Abstract

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.

Keywords

macular thickness, Child, choroid, Familial Mediterranean Fever

References

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

Details

Primary Language	English
Subjects	Health Care Sciences and Services
Published Date	Apr 2018
Journal Section	Original Research
Authors	Fatih BATTAL> Canakkale Onsekiz Mart University, School of Medicine, Department of Pediatrics, Canakkale 0000-0001-9040-7880 Türkiye Hakan AYLANC> (Primary Author) Canakkale Onsekiz Mart University, School of Medicine, Department of Pediatrics, Canakkale 0000-0002-8907-3809 Türkiye Sule YİLDİRİM> Canakkale Onsekiz Mart University, School of Medicine, Department of Pediatrics, Canakkale 0000-0001-5020-8705 Türkiye Yeliz EKİM This is me Canakkale Onsekiz Mart University, School of Medicine, Department of Ophthalmology, Canakkale 0000-0002-6196-0908 Türkiye Fatma SİLAN> Canakkale Onsekiz Mart University, School of Medicine, Department of Medical Genetics, Canakkale 0000-0001-7191-2240 Türkiye Ozturk OZDEMİR> Canakkale Onsekiz Mart University, School of Medicine, Department of Medical Genetics, Canakkale 0000-0003-1057-3235 Türkiye
Publication Date	April 19, 2018
Application Date	December 19, 2017
Acceptance Date	March 2, 2018
Published in Issue	Year 2018, Volume 3, Issue 1

Cite

Bibtex	@research article { fppc368676, journal = {Family Practice and Palliative Care}, issn = {2458-8865}, eissn = {2459-1505}, address = {}, publisher = {Yusuf Haydar ERTEKİN}, year = {2018}, volume = {3}, number = {1}, 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 <https://www.fppc.com.tr/en/pub/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
AMA	Battal F. , Aylanc H. , Yildirim S. , Ekim Y. , Silan F. , Ozdemir O. Macular and choroidal thickness of children with Familial Mediterranean Fever gene mutation. Fam Pract Palliat Care. 2018; 3(1): 23-27.
Vancouver	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. 2018; 3(1): 23-27.
IEEE	F. Battal , H. Aylanc , S. Yildirim , Y. Ekim , F. Silan and O. Ozdemir , "Macular and choroidal thickness of children with Familial Mediterranean Fever gene mutation", Family Practice and Palliative Care, vol. 3, no. 1, pp. 23-27, Apr. 2018, doi:10.22391/fppc.368676

Family Practice and Palliative Care

Ailevi Akdeniz Ateşi gen mutasyonu olan çocuklarda makula ve koroid kalınlıkları

Abstract

Keywords

References

Macular and choroidal thickness of children with Familial Mediterranean Fever gene mutation

Abstract

Keywords

References

Details

Cite

Cited By

ÇOCUKLUKTA AİLEVİ AKDENİZ ATEŞİ HASTALARINDA TANI GECİKMESİNİ ETKİLEYEN FAKTÖRLER

Kırıkkale Üniversitesi Tıp Fakültesi Dergisi

Elif ÇELİKEL

https://doi.org/10.24938/kutfd.933866

Family Practice and Palliative Care ISSN 2458-8865 E-ISSN 2459-1505

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