Best Vitelliform Distrofi; Patofizyoloji, Bulgular, Tanı ve Tedavi

Batıoğlu, Figen; Yanık, Özge

Best Vitelliform Distrofi; Patofizyoloji, Bulgular, Tanı ve Tedavi

Özge YANIK, (Ankara Üniversitesi, Tıp Fakültesi, Göz Hastalıkları Anabilim Dalı, Ankara, Türkiye)

Figen ŞERMET (Ankara Üniversitesi, Tıp Fakültesi, Göz Hastalıkları Anabilim Dalı, Ankara, Türkiye)

Güncel Retina Dergisi

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Yıl: 2021 Cilt: 5 Sayı: 3 Sayfa Aralığı: 201 - 207 Metin Dili: Türkçe İndeks Tarihi: 03-10-2021

Best Vitelliform Distrofi; Patofizyoloji, Bulgular, Tanı ve Tedavi

Öz:

Best vitelliform distrofi, ikinci en sık görülen herediter makula distrofisidir. Erken başlangıçlı, ilerleyici, otozomal dominantgeçişlidir. BEST1 geni 11. kromozomun uzun kolunda yer alır ve bestrofin-1 adlı transmembran proteininin üretimindensorumludur. Hastalık adını klasik yumurta sarısı görünümlü makula lezyonundan almaktadır. Histopatolojisinde artmış retina pigment epiteli (RPE) lipofusini, fotoreseptör kaybı, subRPE birikintiler ve subretinal alanda hücre ve materyal birikimimevcuttur. Koroid neovaskülarizasyonu, makula skarı ve coğrafi atrofi gibi komplikasyonlar gelişmediği sürece iyi seyirlidir.Bu derlemenin amacı güncel literatür bilgilerinin ışığı altında, Best vitelliform distrofisinin olası etyopatogenezini, muayenebulgularını, görüntüleme ve elektrofizyoloji özelliklerini ve tedavi yaklaşımını özetlemektir.

Anahtar Kelime:

Best Vitelliform Dystrophy; Pathophysiology, Findings, Diagnosis, and Treatment

Öz:

Best vitelliform dystrophy is the second most common hereditary macular dystrophy. It is an early-onset, progressive disease with autosomal dominant inheritance. The BEST1 gene is located on the long arm of the 11th chromosome and is responsible for the production of a transmembrane protein called bestrophin-1. The disease takes its name from the classic egg yolk-like macular lesion. Its histopathology shows increased lipofuscin in retinal pigment epithelium (RPE), photoreceptor loss, subRPE deposits, and cell and material accumulation in the subretinal area. As long as complications such as choroidal neovascularization, macular scar and geographical atrophy do not develop, the disease has relatively good prognosis. The aim of this review is to summarize the possible etiopathogenesis, examination findings, imaging and electrophysiology characteristics, and treatment approaches of Best vitelliform dystrophy in the light of current literature.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Derleme Erişim Türü: Bibliyografik

1. Dalvin LA, Pulido JS, Marmorstein AD. Vitelliform dystrophies: Prevalence in Olmsted County, Minnesota, United States. Ophthalmic Genet. 2017;38(2):143-7.
2. Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC. Genetic linkage of vitelliform macular degeneration (Best’s disease) to chromosome 11q13. Nat Genet. 1992;1(4):246-50.
3. Kane Dickson V, Pedi L, Long SB. Structure and insights into the function of a Ca(2+)-activated Cl(-) channel. Nature. 2014;516(7530):213-8.
4. Strauss O, Muller C, Reichhart N, Tamm ER, Gomez NM. The role of bestrophin-1 in intracellular Ca(2+) signaling. Adv Exp Med Biol. 2014;801:113-9.
5. Milenkovic A, Brandl C, Milenkovic VM, Jendryke T, Sirianant L, Wanitchakool P, et al. Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells. Proc Natl Acad Sci U S A. 2015;112(20):E2630-9.
6. Yang T, Liu Q, Kloss B, Bruni R, Kalathur RC, Guo Y, et al. Structure and selectivity in bestrophin ion channels. Science. 2014;346(6207):355-9.
7. Qu Z, Hartzell HC. Bestrophin Cl- channels are highly permeable to HCO3. Am J Physiol Cell Physiol. 2008;294(6):C1371-7.
8. Neussert R, Muller C, Milenkovic VM, Strauss O. The presence of bestrophin-1 modulates the Ca2+ recruitment from Ca2+ stores in the ER. Pflugers Arch. 2010;460(1):163-75.
9. Sohn EH, Francis PJ, Duncan JL, Weleber RG, Saperstein DA, Farrell DF, et al. Phenotypic variability due to a novel Glu292Lys variation in exon
8 of the BEST1 gene causing best macular dystrophy. Arch Ophthalmol. 2009;127(7):913-20.
10. Mullins RF, Kuehn MH, Faidley EA, Syed NA, Stone EM. Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease. Invest Ophthalmol Vis Sci. 2007;48(7):3372-80.
11. O’Gorman S, Flaherty WA, Fishman GA, Berson EL. Histopathologic findings in Best’s vitelliform macular dystrophy. Arch Ophthalmol. 1988;106(9):1261-8.
12. Weingeist TA, Kobrin JL, Watzke RC. Histopathology of Best’s macular dystrophy. Arch Ophthalmol. 1982;100(7):1108-14.
13. Bakall B, Radu RA, Stanton JB, Burke JM, McKay BS, Wadelius C, et al. Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2). Exp Eye Res. 2007;85(1):34-43.
14. Singh R, Shen W, Kuai D, Martin JM, Guo X, Smith MA, et al. iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degeneration. Hum Mol Genet. 2013;22(3):593-607.
15. Duncker T, Greenberg JP, Ramachandran R, Hood DC, Smith RT, Hirose T, et al. Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy. Invest Ophthalmol Vis Sci. 2014;55(3):1471-82.
16. Guziewicz KE, Sinha D, Gomez NM, Zorych K, Dutrow EV, Dhingra A, et al. Bestrophinopathy: An RPE-photoreceptor interface disease. Prog Retin Eye Res. 2017;58:70-88.
17. Tan LX, Toops KA, Lakkaraju A. Protective responses to sublytic complement in the retinal pigment epithelium. Proc Natl Acad Sci U S A. 2016;113(31):8789-94.
18. Renner AB, Tillack H, Kraus H, Kramer F, Mohr N, Weber BH, et al. Late onset is common in best macular dystrophy associated with VMD2 gene mutations. Ophthalmology. 2005;112(4):586-92.
19. Marmorstein AD, Cross HE, Peachey NS. Functional roles of bestrophins in ocular epithelia. Prog Retin Eye Res. 2009;28(3):206-26.
20. Sohn EH, Mullins RF, Stone EM. Macular Dystrophies. In: Ryan SJ, editor. Ryan’s Retina. II. 5th ed: Elsevier; 2013. p. 852-90.
21. Tripathy K, Salini B -. Best disease. In: StatPearls Treasure Island (FL), StatPearls publishing, 2020.
22. Wabbels B, Preising MN, Kretschmann U, Demmler A, Lorenz B. Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy. Graefes Arch Clin Exp Ophthalmol. 2006;244(11):1453-66.
23. Mohler CW, Fine SL. Long-term evaluation of patients with Best’s vitelliform dystrophy. Ophthalmology. 1981;88(7):688-92.
24. Shahzad R, Siddiqui MA. Choroidal neovascularization secondary to Best vitelliform macular dystrophy detected by optical coherence tomography angiography. J AAPOS. 2017;21(1):68-70.
25. Kumar V, Chatra K. Fibrotic pillar leads to focal choroidal excavation in Best vitelliform dystrophy. Graefes Arch Clin Exp Ophthalmol. 2018;256(11):2083-7.
26. Guduru A, Gupta A, Tyagi M, Jalali S, Chhablani J. Optical coherence tomography angiography characterisation of Best disease and associated choroidal neovascularisation. Br J Ophthalmol. 2018;102(4):444-7.
27. Gallemore RP, Hughes BA, Miller SS. Light-Induced Responses of the Retinal Pigment Epithelium. New York City: Oxford University Press; 1998.
28. Meunier I, Senechal A, Dhaenens CM, Arndt C, Puech B, Defoort-Dhellemmes S, et al. Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis. Ophthalmology. 2011;118(6):1130-6.
29. Boon CJ, Klevering BJ, Leroy BP, Hoyng CB, Keunen JE, den Hollander AI. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res. 2009;28(3):187-205.
30. Batioglu F, Yanik O, Demirel S, Caglar C, Ozmert E. A Case of Best Disease Accompanied by Pachychoroid Neovasculopathy. Turk J Ophthalmol. 2019;49(4):226-9.
31. Yang T, Justus S, Li Y, Tsang SH. BEST1: the Best Target for Gene and Cell Therapies. Mol Ther. 2015;23(12):1805-9.
32. Guziewicz KE, Cideciyan AV, Beltran WA, Komaromy AM, Dufour VL, Swider M, et al. BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure. Proc Natl Acad Sci U S A. 2018;115(12):E2839-E48.
33. Chaudhary KM, Mititelu M, Lieberman RM. An evidence-based review of vascular endothelial growth factor inhibition in pediatric retinal diseases: part 2. Coats’ disease, best disease, and uveitis with childhood neovascularization. J Pediatr Ophthalmol Strabismus. 2013;50(1):11-9.
34. Frennesson CI, Wadelius C, Nilsson SE. Best vitelliform macular dystrophy in a Swedish family: genetic analysis and a seven-year follow-up of photodynamic treatment of a young boy with choroidal neovascularization. Acta Ophthalmol. 2014;92(3):238-42.

APA	Yanık Ö, Batıoğlu F (2021). Best Vitelliform Distrofi; Patofizyoloji, Bulgular, Tanı ve Tedavi. , 201 - 207.
Chicago	Yanık Özge,Batıoğlu Figen Best Vitelliform Distrofi; Patofizyoloji, Bulgular, Tanı ve Tedavi. (2021): 201 - 207.
MLA	Yanık Özge,Batıoğlu Figen Best Vitelliform Distrofi; Patofizyoloji, Bulgular, Tanı ve Tedavi. , 2021, ss.201 - 207.
AMA	Yanık Ö,Batıoğlu F Best Vitelliform Distrofi; Patofizyoloji, Bulgular, Tanı ve Tedavi. . 2021; 201 - 207.
Vancouver	Yanık Ö,Batıoğlu F Best Vitelliform Distrofi; Patofizyoloji, Bulgular, Tanı ve Tedavi. . 2021; 201 - 207.
IEEE	Yanık Ö,Batıoğlu F "Best Vitelliform Distrofi; Patofizyoloji, Bulgular, Tanı ve Tedavi." , ss.201 - 207, 2021.
ISNAD	Yanık, Özge - Batıoğlu, Figen. "Best Vitelliform Distrofi; Patofizyoloji, Bulgular, Tanı ve Tedavi". (2021), 201-207.

APA	Yanık Ö, Batıoğlu F (2021). Best Vitelliform Distrofi; Patofizyoloji, Bulgular, Tanı ve Tedavi. Güncel Retina Dergisi, 5(3), 201 - 207.
Chicago	Yanık Özge,Batıoğlu Figen Best Vitelliform Distrofi; Patofizyoloji, Bulgular, Tanı ve Tedavi. Güncel Retina Dergisi 5, no.3 (2021): 201 - 207.
MLA	Yanık Özge,Batıoğlu Figen Best Vitelliform Distrofi; Patofizyoloji, Bulgular, Tanı ve Tedavi. Güncel Retina Dergisi, vol.5, no.3, 2021, ss.201 - 207.
AMA	Yanık Ö,Batıoğlu F Best Vitelliform Distrofi; Patofizyoloji, Bulgular, Tanı ve Tedavi. Güncel Retina Dergisi. 2021; 5(3): 201 - 207.
Vancouver	Yanık Ö,Batıoğlu F Best Vitelliform Distrofi; Patofizyoloji, Bulgular, Tanı ve Tedavi. Güncel Retina Dergisi. 2021; 5(3): 201 - 207.
IEEE	Yanık Ö,Batıoğlu F "Best Vitelliform Distrofi; Patofizyoloji, Bulgular, Tanı ve Tedavi." Güncel Retina Dergisi, 5, ss.201 - 207, 2021.
ISNAD	Yanık, Özge - Batıoğlu, Figen. "Best Vitelliform Distrofi; Patofizyoloji, Bulgular, Tanı ve Tedavi". Güncel Retina Dergisi 5/3 (2021), 201-207.