Medication Summary

No medications are used to treat Best disease. Docosahexaenoic acid supplementation has been studied in a small clinical trial; no benefit in retinal or retinal pigment epithelial function was found.^[36]

Best F. Ubereine hereditare Maculaaffektion. Beitrage zur Vererbungslehre. Augenheilkd. 1905. 13:199.
Pinckers A, Cuypers MH, Aandekerk AL. The EOG in Best's disease and dominant cystoid macular dystrophy (DCMD). Ophthalmic Genet. 1996 Sep. 17(3):103-8. [QxMD MEDLINE Link].
Hartzell HC, Qu Z, Yu K, Xiao Q, Chien LT. Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies. Physiol Rev. 2008 Apr. 88(2):639-72. [QxMD MEDLINE Link].
Weingeist TA, Kobrin JL, Watzke RC. Histopathology of Best's macular dystrophy. Arch Ophthalmol. 1982 Jul. 100(7):1108-14. [QxMD MEDLINE Link].
Leu J, Schrage NF, Degenring RF. Choroidal neovascularisation secondary to Best's disease in a 13-year-old boy treated by intravitreal bevacizumab. Graefes Arch Clin Exp Ophthalmol. 2007 Nov. 245(11):1723-5. [QxMD MEDLINE Link].
Miller SA, Bresnick GH, Chandra SR. Choroidal neovascular membrane in Best's vitelliform macular dystrophy. Am J Ophthalmol. 1976 Aug. 82(2):252-5. [QxMD MEDLINE Link].
Blodi CF, Stone EM. Best's vitelliform dystrophy. Ophthalmic Paediatr Genet. 1990 Mar. 11(1):49-59. [QxMD MEDLINE Link].
Mohler CW, Fine SL. Long-term evaluation of patients with Best's vitelliform dystrophy. Ophthalmology. 1981 Jul. 88(7):688-92. [QxMD MEDLINE Link].
Zhang K, Nguyen TH, Crandall A, Donoso LA. Genetic and molecular studies of macular dystrophies: recent developments. Surv Ophthalmol. 1995 Jul-Aug. 40(1):51-61. [QxMD MEDLINE Link].
Arora R, Khan K, Kasilian ML, Strauss RW, Holder GE, Robson AG, et al. Unilateral BEST1-Associated Retinopathy. Am J Ophthalmol. 2016 Sep. 169:24-32. [QxMD MEDLINE Link].
Berkley WL, Bussey FR. Heredodegeneration of the macula. Am J Ophthalmol. 1949. 32:361-5.
Deutman AF. The Hereditary Dystrophies of the Posterior Pole of the Eye. Assen: Van Gorcum; 1971. 198.
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 Mar. 31(3):581-95. [QxMD MEDLINE Link].
Falls HF. The polymorphous manifestations of Best's disease (vitelliform eruptive disease of the retina). Trans Am Ophthalmol Soc. 1969. 67:265-82. [QxMD MEDLINE Link].
Krill AE, Morse PA, Potts AM, Klien BA. Hereditary vitelliruptive macular degeneration. Am J Ophthalmol. 1966 Jun. 61(6):1405-15. [QxMD MEDLINE Link].
Epstein GA, Rabb MF. Adult vitelliform macular degeneration: diagnosis and natural history. Br J Ophthalmol. 1980 Oct. 64(10):733-40. [QxMD MEDLINE Link].
Miller SA. Multifocal Best's vitelliform dystrophy. Arch Ophthalmol. 1977 Jun. 95(6):984-90. [QxMD MEDLINE Link].
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 Jun. 26(6):866-71. [QxMD MEDLINE Link]. [Full Text].
Marquardt A, Stohr H, Passmore LA, Kramer F, Rivera A, Weber BH. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). Hum Mol Genet. 1998 Sep. 7(9):1517-25. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Stohr H, Marquardt A, Rivera A, Cooper PR, Nowak NJ, Shows TB, et al. A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1. Genome Res. 1998 Jan. 8(1):48-56. [QxMD MEDLINE Link]. [Full Text].
Meunier I, Senechal A, Dhaenens CM, et al. Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis. Ophthalmology. 2011 Jun. 118(6):1130-6. [QxMD MEDLINE Link].
Lanzetta P, Virgili G, Menchini U. Indocyanine green angiography in vitelliform macular lesions. Ophthalmologica. 1996. 210(4):189-94. [QxMD MEDLINE Link].
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 May. 38 (5):1041-1046. [QxMD MEDLINE Link].
Battaglia Parodi M, Sacconi R, Iacono P, Del Turco C, Bandello F. CHOROIDAL THICKNESS IN BEST VITELLIFORM MACULAR DYSTROPHY. Retina. 2016 Apr. 36 (4):764-9. [QxMD MEDLINE Link].
Kay CN, Abramoff MD, Mullins RF, et al. Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy. Arch Ophthalmol. 2012 Mar. 130(3):357-64. [QxMD MEDLINE Link].
Kay DB, Land ME, Cooper RF, Dubis AM, Godara P, Dubra A, et al. Outer retinal structure in best vitelliform macular dystrophy. JAMA Ophthalmol. 2013 Sep. 131(9):1207-15. [QxMD MEDLINE Link]. [Full Text].
Deutman AF. Electro-oculography in families with vitelliform dystrophy of the fovea. Detection of the carrier state. Arch Ophthalmol. 1969 Mar. 81(3):305-16. [QxMD MEDLINE Link].
Wajima R, Chater SB, Katsumi O, Mehta MC, Hirose T. Correlating visual acuity and electrooculogram recordings in Best's disease. Ophthalmologica. 1993. 207(4):174-81. [QxMD MEDLINE Link].
Glybina IV, Frank RN. Localization of multifocal electroretinogram abnormalities to the lesion site: findings in a family with Best disease. Arch Ophthalmol. 2006 Nov. 124(11):1593-600. [QxMD MEDLINE Link].
Patrinely JR, Lewis RA, Font RL. Foveomacular vitelliform dystrophy, adult type. A clinicopathologic study including electron microscopic observations. Ophthalmology. 1985 Dec. 92(12):1712-8. [QxMD MEDLINE Link].
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 Oct 11. 1-6. [QxMD MEDLINE Link].
Andrade RE, Farah ME, Costa RA. Photodynamic therapy with verteporfin for subfoveal choroidal neovascularization in best disease. Am J Ophthalmol. 2003 Dec. 136(6):1179-81. [QxMD MEDLINE Link].
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 Jul. 37 (7):1360-1370. [QxMD MEDLINE Link].
Yang T, Justus S, Li Y, Tsang SH. BEST1: the Best Target for Gene and Cell Therapies. Mol Ther. 2015 Dec. 23 (12):1805-9. [QxMD MEDLINE Link].
Lee TK, Clandinin MT, Hébert M, MacDonald IM. Effect of docosahexaenoic acid supplementation on the macular function of patients with Best vitelliform macular dystrophy: randomized clinical trial. Can J Ophthalmol. 2010 Oct. 45(5):514-9. [QxMD MEDLINE Link].
Querques G, Regenbogen M, Quijano C, Delphin N, Soubrane G, Souied EH. High-definition optical coherence tomography features in vitelliform macular dystrophy. Am J Ophthalmol. 2008 Oct. 146(4):501-507. [QxMD MEDLINE Link].

Media Gallery

Classic egg-yolk appearance in the second (vitelliform) stage of vitelliform macular dystrophy. The 0.5-6 mm diameter yellow or orange lesion results from an accumulation of lipofuscin beneath and within the retinal pigment epithelium. This lesion is usually noted in individuals aged 3-15 years. Visual acuity is most often preserved in the 20/20 to 20/40 range.
The pseudohypopyon (stage 3) lesion is found in the teenage or later years. It results from a break in the retinal pigment epithelium, allowing accumulation of the yellow substance in the subretinal space with the formation of a fluid level. This fluid can shift over 60-90 minutes with positioning.
The atrophic stage (stage 5) may be accompanied by the deposition of pigment or choroidal neovascularization, both of which can lead to visual deterioration.
The scrambled egg appearance of stage 4 results from a deterioration of the uniform cystic lesion noted in stage 2 (egg-yolk appearance). At this point, the visual acuity can begin to worsen.
Adult vitelliform macular dystrophy resembles Best disease, but it can be differentiated by its later age of onset, smaller lesion, and normal electro-oculogram testing.
The fluorescein angiogram of the latter lesion reveals a transmission defect consistent with atrophic changes in the retinal pigment epithelium. This appearance also can be found in the later stages of Best disease.
Spectral domain optical coherence tomography demonstrates subretinal lesion with adjacent cystoid macular edema.
Autosomal-recessive bestrophinopathy: Atrophic central lesion and white subretinal deposits along the vascular arcades in a 14-year-old female with 20/70 vision and no family history of Best macular dystrophy.

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Author

Michael Altaweel, MD, FRCSC Professor, Fellowship Director for Vitreoretinal Surgery, Department of Ophthalmology and Visual Science, University of Wisconsin School of Medicine and Public Health

Michael Altaweel, MD, FRCSC is a member of the following medical societies: American Academy of Ophthalmology, American Society of Retina Specialists, Association for Research in Vision and Ophthalmology, Macula Society

Disclosure: Nothing to disclose.

Coauthor(s)

Kathleen R Schildroth, MD Assistant Professor, Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health

Disclosure: Nothing to disclose.

Paul S Boeke, MD Fellow in Vitreoretinal Surgery, Department of Ophthalmology, University of Wisconsin Health Care

Disclosure: Nothing to disclose.

Specialty Editor Board

Simon K Law, MD, PharmD Clinical Professor of Health Sciences, Department of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, David Geffen School of Medicine

Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, Association for Research in Vision and Ophthalmology, American Glaucoma Society

Disclosure: Nothing to disclose.

Steve Charles, MD Founder and CEO of Charles Retina Institute; Clinical Professor, Department of Ophthalmology, University of Tennessee College of Medicine

Disclosure: Received royalty and consulting fees for: Alcon Laboratories.

Chief Editor

Donny W Suh, MD, MBA, FAAP, FACS Professor, Department of Ophthalmology, Chief of Pediatric Ophthalmology and Adult Strabismus, Medical Director of Eye-Mobile, Gavin Herbert Eye Institute, UC Irvine Health, University of California, Irvine, School of Medicine; Associate Clinical Professor, Department of Pediatrics, Creighton University School of Medicine; Chief Medical Officer, Suh Precision Syringe, LLC; Medical Staff, Children’s Hospital of Orange County

Donny W Suh, MD, MBA, FAAP, FACS is a member of the following medical societies: American Academy of Ophthalmology, American Academy of Pediatrics, American Association for Pediatric Ophthalmology and Strabismus, American College of Healthcare Executives, American College of Surgeons, American Medical Association, Section on Ophthalmology, American Ophthalmological Society, International Strabismological Association, Iowa Medical Society, Metro Omaha Medical Society, National Eye Care Project, Nebraska Chapter of American Academy of Pediatrics, ORBIS, Surgical Eye Expeditions (SEE) International

Disclosure: Received research grant from: NIH / PEDIG.

Additional Contributors

Andrew W Lawton, MD Neuro-Ophthalmology, Ochsner Health Services

Andrew W Lawton, MD is a member of the following medical societies: American Academy of Ophthalmology, Arkansas Medical Society, Southern Medical Association

Disclosure: Nothing to disclose.

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