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Book

Best Disease

Koushik Tripathy  1 , Baby Salini  2
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
.
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Book

Best Disease

Koushik Tripathy et al.
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Excerpt

Best disease (Best vitelliform macular dystrophy, BVMD) is a rare autosomal dominant disorder due to the mutation of BEST1 (or VMD2, TU15B, OMIM #607854) gene with incomplete penetrance and variable expression which typically presents in childhood. However, there are also reports of autosomal recessive BVMD.

Its characteristic presentation is by bilateral fundus changes of egg-yolk appearance (as in a fried egg with sunny side up) at the macula in both eyes. Retinal pigment epithelium (RPE) is primarily affected. The electrooculogram (EOG) is typically affected, with reduced Arden ratio both in carriers and patients. The visual prognosis of the disease is usually good, usually maintaining driving/reading capability in at least one eye throughout life.

Other names of the condition include Best macular dystrophy, Best disease, vitelliform dystrophy, early or juvenile-onset vitelliform macular dystrophy, vitelline dystrophy, and vitelliruptive degeneration. The disease gets its name from a German ophthalmologist Dr. Friedrich Best who described a pedigree suffering from various stages of the disease in 1905.

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Conflict of interest statement

Disclosure: Koushik Tripathy declares no relevant financial relationships with ineligible companies.

Disclosure: Baby Salini declares no relevant financial relationships with ineligible companies.

References

    1. Zhao L, Grob S, Corey R, Krupa M, Luo J, Du H, Lee C, Hughes G, Lee J, Quach J, Zhu J, Shaw PX, Kozak I, Zhang K. A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy. Eye (Lond) 2012 Jun;26(6):866-71. - PMC - PubMed
    1. 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. 2011 Jul 18;52(8):5332-8. - PubMed
    1. 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. Arch Ophthalmol. 2011 Feb;129(2):211-7. - PubMed
    1. Querques G, Zerbib J, Santacroce R, Margaglione M, Delphin N, Rozet JM, Kaplan J, Martinelli D, Delle Noci N, Soubrane G, Souied EH. Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. Mol Vis. 2009 Dec 31;15:2960-72. - PMC - PubMed
    1. 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 Jul;1(4):246-50. - PubMed

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