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

Fatih Battal; Hakan Aylanc; Sule Yildirim; Yeliz Ekim; Fatma Silan; Ozturk Ozdemir

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 Yildirim , Yeliz Ekim Fatma Silan , Ozturk Ozdemir

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

Cited By: 2

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 Yildirim , Yeliz Ekim Fatma Silan , Ozturk Ozdemir

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

Cited By: 2

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

There are 22 citations in total.

Details

Primary Language	English
Subjects	Health Care Administration
Journal Section	Original Research
Authors	Fatih Battal 0000-0001-9040-7880 Hakan Aylanc 0000-0002-8907-3809 Sule Yildirim 0000-0001-5020-8705 Yeliz Ekim 0000-0002-6196-0908 Fatma Silan 0000-0001-7191-2240 Ozturk Ozdemir 0000-0003-1057-3235
Publication Date	April 19, 2018
Submission Date	December 19, 2017
Acceptance Date	March 2, 2018
Published in Issue	Year 2018 Volume: 3 Issue: 1

Cite

APA	Battal, F., Aylanc, H., Yildirim, S., Ekim, Y., et al. (2018). Macular and choroidal thickness of children with Familial Mediterranean Fever gene mutation. Family Practice and Palliative Care, 3(1), 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. April 2018;3(1):23-27. doi:10.22391/fppc.368676
Chicago	Battal, Fatih, Hakan Aylanc, Sule Yildirim, Yeliz Ekim, Fatma Silan, and Ozturk Ozdemir. “Macular and Choroidal Thickness of Children With Familial Mediterranean Fever Gene Mutation”. Family Practice and Palliative Care 3, no. 1 (April 2018): 23-27. https://doi.org/10.22391/fppc.368676.
EndNote	Battal F, Aylanc H, Yildirim S, Ekim Y, Silan F, Ozdemir O (April 1, 2018) Macular and choroidal thickness of children with Familial Mediterranean Fever gene mutation. Family Practice and Palliative Care 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”, Fam Pract Palliat Care, vol. 3, no. 1, pp. 23–27, 2018, doi: 10.22391/fppc.368676.
ISNAD	Battal, Fatih et al. “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.
JAMA	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;3:23–27.
MLA	Battal, Fatih et al. “Macular and Choroidal Thickness of Children With Familial Mediterranean Fever Gene Mutation”. Family Practice and Palliative Care, vol. 3, no. 1, 2018, pp. 23-27, doi:10.22391/fppc.368676.
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. Fam Pract Palliat Care. 2018;3(1):23-7.