Authors : Areboina Lavanya; Dasari Mercy Leona

Volume/Issue : Volume 9 - 2024, Issue 5 - May

Google Scholar : https://tinyurl.com/y6xkvr7z

Scribd : https://tinyurl.com/4mnh2rvt

DOI : https://doi.org/10.38124/ijisrt/IJISRT24MAY505

Note : A published paper may take 4-5 working days from the publication date to appear in PlumX Metrics, Semantic Scholar, and ResearchGate.

Abstract : The German ophthalmologist Friedrich Best named Best vitelliform macular dystrophy (BVD), sometimes referred to as Best disease, in 1905 when he discovered a family with a history of early-onset macular degeneration. A Swedish study assessed the frequency of BVMD to be 2 in 10,000, whereas a Danish examination found 1.5 in 100,000 cases. If a parent with the condition has a kid with an unaffected spouse, there is a 50% chance that the child will inherit the condition from the parent. The syndrome is caused by a mutation in the VMD2 or BEST1 gene found at chromosome 11q12-q13. It is yet unclear how bestrophinopathies pathophysiologically operate. An ionic imbalance in the RPE milieu, which BEST1 gene mutations can bring on, can lead to impaired RPE functions. The best sickness is in five phases. There is currently no recognized treatment for the best sickness. One treatment option for CNV is VEFG injections, either used alone or in conjunction with photodynamic therapy (PDT). Anti-vascular endothelial growth factor (Anti- VEGF) treatments can prevent or reduce the creation of new blood vessels. This can postpone the onset of blindness and slow down the rate at which they leak.

Keywords : Best Vitelliform Macular Dystrophy, Electro- Oculography, Bestrophin, Choroidal Neovascularization, Photodynamic Treatment

References :

1. Zhao L, Grob S, Corey R, Krupa M, Luo J, Du H, et al. A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy. Eye (Lond). 2012;26:866–71.
2. Iannaccone A, Kerr NC, Kinnick TR, Calzada JI, Stone EM. Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications: Report of a family and management of early-onset neovascular complications. Arch Ophthalmol [Internet]. 2011;129(2):211–7.
3. Querques G, Zerbib J, Santacroce R, Margaglione M, Delphin N, Rozet J-M, et al. Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. Mol Vis. 2009;15:2960–72.
4. Johnson AA, Guziewicz KE, Lee CJ, Kalathur RC, Pulido JS, Marmorstein LY, et al. Bestrophin 1 and retinal disease. Prog Retin Eye Res [Internet]. 2017;58:45–69.
5. Lin Y, Li T, Ma C, Gao H, Chen C, Zhu Y, et al. Genetic variations in Bestrophin‑1 and associated clinical findings in two Chinese patients with juvenile‑onset and adult‑onset best vitelliform macular dystrophy. Mol Med Rep [Internet]. 2017;
6. Ngo WK, Fisher YL, Silverman RH, Tsang SH, Spaide RF. Scleral thickness in autosomal dominant Best vitelliform macular dystrophy. Retin Cases Brief Rep [Internet]. 2023;
7. O’Gorman S, Flaherty WA, Fishman GA, Berson EL. Histopathologic findings in Best’s vitelliform macular dystrophy. Arch Ophthalmol [Internet]. 1988;106(9):1261–8.
8. Zhang Q, Small KW, Grossniklaus HE. Clinicopathologic findings in Best vitelliform macular dystrophy. Arbeitsphysiologie [Internet]. 2011;249(5):745–51.
9. 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 [Internet]. 2007;85(1):34–43.
10. Weingeist TA, Kobrin JL, Watzke RC. Histopathology of Best’s macular dystrophy. Arch Ophthalmol [Internet]. 1982;100(7):1108–14.
11. Pece A, Gaspari G, Avanza P, Magni R, Brancato R. Best’s multiple vitelliform degeneration. Int Ophthalmol [Internet]. 1992;16(6):459–64.
12. Tripathy K, Chawla R, Mittal K, Temkar S. Egg yolk in the eye: an ultrawide field evaluation. BMJ Case Rep [Internet]. 2016;bcr2016214358.
13. Battaglia Parodi M, Iacono P, Romano F, Bandello F. SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY FEATURES IN DIFFERENT STAGES OF BEST VITELLIFORM MACULAR DYSTROPHY. Retina. 2018;38:1041–6.
14. Yannuzzi NA, Mrejen S, Capuano V, Bhavsar KV, Querques G, Freund KB. A central hyporeflective subretinal lucency correlates with a region of focal leakage on fluorescein angiography in eyes with central serous chorioretinopathy. Ophthalmic Surg Lasers Imaging Retina [Internet]. 2015;46(8):832–6.
15. Mohler CW, Fine SL. Long-term evaluation of patients with Best’s vitelliform dystrophy. Ophthalmology [Internet]. 1981;88(7):688–92.
16. Bitner H, Mizrahi-Meissonnier L, Griefner G, Erdinest I, Sharon D, Banin E. A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode. Invest Ophthalmol Vis Sci [Internet]. 2011;52(8):5332–8.
17. Deutman AF, Hoyng CB. Medical Retina. Schachat AP, Hengst TC, editors. London; 2001.
18. Petrukhin K, Koisti MJ, Bakall B, Li W. Identification of the gene responsible for Best’s macular dystrophy. Nature Genet. 1998;19:241–7.
19. Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC. Genetic linkage of vitelliform macular degeneration (Best’s disease) to chromosome 11q13. Nat Genet [Internet]. 1992;1(4):246–50.
20. Hartzell HC, Qu Z, Yu K, Xiao Q, Chien L-T. Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies. Physiol Rev [Internet]. 2008;88(2):639–72.
21. Marmorstein AD, Marmorstein LY, Rayborn M, Wang X, Hollyfield JG, Petrukhin K. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. Proc Natl Acad Sci U S A [Internet]. 2000;97(23):12758–63.
22. Blodi CF, Stone EM. Best’s vitelliform dystrophy. Ophthalmic Paediatr Genet. 1990;11(1):49–59.
23. Buquea A, Vankawalaa S, Hussaina R, Dudhatraa M, Manhicab G. A clinical case report: Best vitelliform macular dystrophy disease, Mozambique. J Clin Exp Ophthalmol [Internet]. 2020;11(3).
24. Jarc-Vidmar M, Popovic P, Hawlina M. Mapping of central visual function by microperimetry and autofluorescence in patients with Best’s vitelliform dystrophy. EYE [Internet]. 2006;20(6):688–96.
25. Cline D, Hofstetter HW, Griffin JR. Dictionary of Visual Science. 4ed. Boston; Butterworth-Heinemann; 1997.