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Best Disease Clinical Presentation

  • Author: Michael Altaweel, MD, FRCSC; Chief Editor: Hampton Roy, Sr, MD  more...
 
Updated: Jul 22, 2014
 

History

Many individuals with Best disease initially are asymptomatic, with fundus lesions noted on examination. Visual symptoms can include decreased acuity (blurring) and metamorphopsia. These symptoms may worsen if the disease progresses to the atrophic stage.

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Physical

Best disease has variable clinical expression. Some carriers have a normal examination and remain asymptomatic. Findings are usually bilateral and can be asymmetric.[7, 8, 9, 10]

  • Visual acuity
    • Previtelliform stage - 20/20
    • Vitelliform stage - 20/20 to 20/50
    • Pseudohypopyon stage - 20/20 to 20/50
    • Vitelliruptive stage - 20/20 to 20/100
    • Atrophic stage - Acuity may reduce to less than 20/200
  • Several stages of fundus appearance are described.[11, 12] Not all individuals progress beyond the early stages.[13] Other individuals can skip from the earliest stages to an atrophic-appearing macula. Unilateral findings and multifocal lesions have been described.[14, 10]
    • Stage 1 (previtelliform) - Normal macula or subtle RPE pigment changes, EOG abnormal
    • Stage 2 (vitelliform), shown below - Well-circumscribed, 0.5-5 mm round, elevated, yellow or orange lesion; described as an egg-yolk appearance; usually centered on the fovea; can be multifocal; the rest of the fundus has a normal appearance.
      Classic egg-yolk appearance in the second (vitelliClassic 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.
    • Stage 3 (pseudohypopyon), shown below - Yellow material can break through the RPE and accumulate in the subretinal space in a cyst with a fluid level formed. The yellow material will shift with extended changes in position (60-90 min). This stage most often is found in the teenage years, but it has been described in individuals aged 8-38 years.
      The pseudohypopyon (stage 3) lesion is found in thThe 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.
    • Stage 4 (vitelliruptive), shown below - Scrambled egg appearance is due to the breakup of the uniform vitelliform lesion. Pigment clumping and early atrophic changes may be noted. Visual acuity may deteriorate moderately.
      The scrambled egg appearance of stage 4 results frThe 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.
    • Stage 5 (atrophic), shown below - As the yellow material disappears over time, an area of RPE atrophy remains. This appearance is difficult to distinguish from other causes of macular degeneration. Visual acuity can deteriorate more markedly at this stage.
      The atrophic stage (stage 5) may be accompanied byThe atrophic stage (stage 5) may be accompanied by the deposition of pigment or choroidal neovascularization, both of which can lead to visual deterioration.
    • Stage 6 (choroidal neovascular/cicatricial) - Following the atrophic stage, choroidal neovascularization can develop,[6] leading to a whitish subretinal fibrous scar.
  • Hyperopia is common.
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Causes

Best disease is generally autosomal dominant with variable penetrance. Genetic linkage has mapped the disease to the long arm of chromosome 11 (11q12-q13). The abnormality is in the RPE, as noted on histopathology and electrophysiology testing. An autosomal recessive form of Best disease has been described.[15]

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Contributor Information and Disclosures
Author

Michael Altaweel, MD, FRCSC Professor, Department of Ophthalmology and Visual Sciences, 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, Association for Research in Vision and Ophthalmology, American Society of Retina Specialists

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 Director of Charles Retina Institute; Clinical Professor, Department of Ophthalmology, University of Tennessee College of Medicine

Steve Charles, MD is a member of the following medical societies: American Academy of Ophthalmology, American Society of Retina Specialists, Macula Society, Retina Society, Club Jules Gonin

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

Chief Editor

Hampton Roy, Sr, MD Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy, Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

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.

References
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  2. 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. [Medline].

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  5. 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. [Medline].

  6. Miller SA, Bresnick GH, Chandra SR. Choroidal neovascular membrane in Best's vitelliform macular dystrophy. Am J Ophthalmol. 1976 Aug. 82(2):252-5. [Medline].

  7. Berkley WL, Bussey FR. Heredodegeneration of the macula. Am J Ophthalmol. 1949. 32:361-5.

  8. Blodi CF, Stone EM. Best's vitelliform dystrophy. Ophthalmic Paediatr Genet. 1990 Mar. 11(1):49-59. [Medline].

  9. Deutman AF. The Hereditary Dystrophies of the Posterior Pole of the Eye. Assen: Van Gorcum; 1971. 198.

  10. 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. [Medline].

  11. Falls HF. The polymorphous manifestations of Best's disease (vitelliform eruptive disease of the retina). Trans Am Ophthalmol Soc. 1969. 67:265-82. [Medline].

  12. Krill AE, Morse PA, Potts AM, Klien BA. Hereditary vitelliruptive macular degeneration. Am J Ophthalmol. 1966 Jun. 61(6):1405-15. [Medline].

  13. Epstein GA, Rabb MF. Adult vitelliform macular degeneration: diagnosis and natural history. Br J Ophthalmol. 1980 Oct. 64(10):733-40. [Medline].

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  15. 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. [Medline]. [Full Text].

  16. 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. [Medline].

  17. 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. [Medline].

  18. 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. [Medline]. [Full Text].

  19. 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. [Medline].

  20. 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. [Medline].

  21. Lanzetta P, Virgili G, Menchini U. Indocyanine green angiography in vitelliform macular lesions. Ophthalmologica. 1996. 210(4):189-94. [Medline].

  22. 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. [Medline].

  23. 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. [Medline].

  24. 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. [Medline]. [Full Text].

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  27. 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. [Medline].

  28. 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. [Medline].

  29. 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. [Medline].

  30. 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. [Medline].

  31. 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. [Medline].

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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.
 
 
 
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