Best Vitelliform Dystrophy


  • Tjok Agung Purnama Wisesaputra Denpasar, Bali, Indonesia



Best disease, best vitelliform dystrophy, retinal pigment epithelium (RPE), retina


Best Vitelliform Dystrophy atau Best disease autosomal dominant maculopathy disebabkan oleh mutasi gen BEST1 (atau VMD2), yang terletak pada kromosom 11 dan mengkodekan protein bestrophin, protein ini terlokalisir pada membran plasma basolateral RPE. Individu Best disease sering menunjukkan lesi makula berwarna kuning, seperti kuning telur. Penyakit ini cenderung muncul pada periode anak-anak atau dewasa muda, Sampai saat ini belum ada pengobatan untuk Best disease.


Best Vitelliform Dystrophy or Best disease is an autosomal dominant maculopathy caused by mutations in the BEST1 (or VMD2), which is located on chromosome 11 and encodes the protein bestrophin, this protein localizes to the basolateral plasma membrane of the RPE. Affected individuals frequently show a yellow macular lesion, like egg yolks. This disease tends to present in children or young adults. Until now there has been no treatment for Best disease.



Download data is not yet available.


Schachat AP, Wilisoson CP, Hinton DR, Sadda SR, Wiedemann P. Ryan’s retina. 6th ed. Elsevier; 2018.

Chowers I, Tiosano L, Audo I, Grunin M, Boon CJ. Adult-onset foveomacular vitelliform dystrophy: A fresh perspective. Prog Retin Eye Res. 2015;47:64-85.

American Academy of Ophthalmology. Retina and vitreous 2016-2017 basic and clinical science course. San Francisco: American Academy of Ophthalmology; 2016.

Talia RK, Anna CS, Leonard F, Bailey F.Unilateral BEST disease: A case report. Retinal Cases & Brief Reports. 2017;11:191–6.

Johnson AA, Guziewicz KE, Lee CJ, Kalathur RC, Pulido JS, Marmorstein LY, et al. Bestrophin 1 and retinal disease. Prog Retin Eye Res. 2017;58:45–69.

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

Altaweel M. Best disease. Medscape [Internet]. 2018 [cited 2019 March 28]. Available from:

Kinnick TR, Mullins RF, Dev S, Leys M, Mackey DA, Kay CN, et al. Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. Retina. 2011;31:581-95.

Moss H, Moura-Coelho N. Best disease and bestrophinopathies. EyeWiki [Internet]. 2019 [cited 2019 March 28]. Available from:

Yang T, Justus S, Li Y, Tsang SH. BEST1: The best target for gene and cell therapies. Mol Ther. 2015;23:1805-9.

Lin CF, Sarraf D. Best disease presenting as a giant serous pigment epithelial detachment. Retin Cases Brief Rep. 2014;8:247–50.

Lee YS, Kim ES, Kim M, Kim YG, Kwak HW, Yu SY. Atypical vitelliform macular dystrophy misdiagnosed as chronic central serous chorioretinopathy: Case reports. BMC Ophthalmol. 2012;12:25.

Ozdek S, Ozmen MC, Tufan HA, Gurelik G, Hasanreisoglu B. Photodynamic therapy for best disease complicated by choroidal neovascularization in children. J Pediatr Ophthalmol Strabismus. 2011;11:1-6.

Khan KN, Mahroo OA, Islam F, Webster AR, Moore AT, Michaelides M. Functional and anatomical outcomes of choroidal neovascularization complicating BEST1-related retinopathy. Retina. 2017;37:1360-70.




How to Cite

Wisesaputra, T. A. P. (2020). Best Vitelliform Dystrophy. Cermin Dunia Kedokteran, 47(5), 359–362.