eMedicine Specialties > Ophthalmology > Retina

Best Disease: Differential Diagnoses & Workup

Author: Michael Altaweel, MD, FRCS(C), Associate Professor, Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health
Contributor Information and Disclosures

Updated: Nov 26, 2007

Differential Diagnoses

Other Problems to Be Considered

Vitelliform stage

 Adult foveomacular dystrophy
Central serous retinopathy with fibrinous exudate
Pigment epithelial detachment/age-related macular degeneration
Coalescence of basal laminar drusen
Solar retinopathy
Stage 1 macular hole

Atrophic stage

 Age-related macular degeneration
Stargardt disease
Adult foveomacular dystrophy
Chronic central serous retinopathy

Workup

Imaging Studies

  • Fluorescein angiogram reveals blockage of choroidal fluorescence by the vitelliform lesion. The angiogram is otherwise normal at this stage. In the atrophic stage, a transmission defect is noted. If a choroidal neovascular membrane develops, then a corresponding area of hyperfluorescence with leakage will be found.
  • Fundus photography is useful for documentation and follow-up of fundus lesions.

Other Tests

  • Electro-oculogram
    • The EOG, which reflects RPE function, is the most diagnostic test for evaluating vitelliform macular dystrophy. In the majority of such individuals, a severe decrease occurs in light response, reflected by an Arden (light-peak/dark-trough) ratio of 1.1-1.5. (The normal Arden ratio is 1.8.) Carriers will also have an abnormal EOG result. No correlation exists between EOG result and disease stage, visual acuity, or patient age. EOG results are usually symmetric for both eyes.
    • The EOG is very useful for distinguishing this diagnosis from its differential. The EOG result is usually normal in adult foveomacular dystrophy.
  • The full-field electroretinogram (ERG) result is normal in this condition. A focal ERG or multifocal ERG, concentrating on macular function, may reveal some abnormality.
  • Genetic testing: This disorder has been mapped to a genetic defect in chromosome 11 (region q12-q13.1).

Histologic Findings

This disease primarily affects the RPE. Lipofuscin accumulates within RPE cells and in the sub-RPE space. This material stains PAS-positive. The RPE can degenerate, and macrophages containing PAS-positive material have been found to migrate into the outer retina. The choriocapillaris is normal. Choroidal neovascularization has been demonstrated.

Staging

See Physical.

More on Best Disease

Overview: Best Disease
Differential Diagnoses & Workup: Best Disease
Treatment & Medication: Best Disease
Follow-up: Best Disease
Multimedia: Best Disease
References
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References

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

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

  4. Deutman AF. Electro-oculography in families with vitelliform dystrophy of the fovea. Detection of the carrier state. Arch Ophthalmol. Mar 1969;81(3):305-16. [Medline].

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

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

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

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

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

  10. 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. Nov 2007;245(11):1723-5. [Medline].

  11. 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. Sep 1998;7(9):1517-25. [Medline].

  12. Miller SA. Multifocal Best's vitelliform dystrophy. Arch Ophthalmol. Jun 1977;95(6):984-90. [Medline].

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

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  15. Patrinely JR, Lewis RA, Font RL. Foveomacular vitelliform dystrophy, adult type. A clinicopathologic study including electron microscopic observations. Ophthalmology. Dec 1985;92(12):1712-8. [Medline].

  16. Pinckers A, Cuypers MH, Aandekerk AL. The EOG in Best's disease and dominant cystoid macular dystrophy (DCMD). Ophthalmic Genet. Sep 1996;17(3):103-8. [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. Jul 1992;1(4):246-50. [Medline].

  18. Stöhr 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. Jan 1998;8(1):48-56. [Medline].

  19. 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. [Medline].

  20. Weingeist TA, Kobrin JL, Watzke RC. Histopathology of Best's macular dystrophy. Arch Ophthalmol. Jul 1982;100(7):1108-14. [Medline].

  21. Zhang K, Nguyen TH, Crandall A, Donoso LA. Genetic and molecular studies of macular dystrophies: recent developments. Surv Ophthalmol. Jul-Aug 1995;40(1):51-61. [Medline].

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Further Reading

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Keywords

Best’s disease, vitelliform macular dystrophy, vitelline dystrophy, vitelliruptive degeneration

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Contributor Information and Disclosures

Author

Michael Altaweel, MD, FRCS(C), Associate Professor, Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health
Michael Altaweel, MD, FRCS(C) is a member of the following medical societies: American Academy of Ophthalmology and Association for Research in Vision and Ophthalmology
Disclosure: Nothing to disclose.

Medical Editor

Andrew W Lawton, MD, Medical Director of Neuro-Ophthalmology Service, Section of Ophthalmology, Baptist Eye Center, Baptist Health Medical Center
Andrew W Lawton, MD is a member of the following medical societies: American Academy of Ophthalmology, Arkansas Medical Society, and Southern Medical Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Simon K Law, MD, PharmD, Assistant Professor of Ophthalmology, Jules Stein Eye Institute; Chief of Section of Ophthalmology Surgical Services, Department of Veterans Affairs Healthcare Center, West Los Angeles
Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, American Glaucoma Society, and Association for Research in Vision and Ophthalmology
Disclosure: Nothing to disclose.

Managing Editor

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, Club Jules Gonin, Macula Society, and Retina Society
Disclosure: Alcon Laboratories Consulting fee Consulting

CME Editor

Lance L Brown, OD, MD, Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri
Disclosure: Nothing to disclose.

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, and Pan-American Association of Ophthalmology
Disclosure: Nothing to disclose.

 
 
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