eMedicine Specialties > Ophthalmology > Retina

Best Disease: Follow-up

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

Follow-up

Further Outpatient Care

  • Examination of visual acuity and fundus lesions should be performed on a schedule dictated by the current stage of the disease. If visual changes occur at any stage, then an earlier visit should be scheduled.
    • Previtelliform stage - Yearly
    • Vitelliform/pseudohypopyon stage - Every 6 months
    • Scrambled egg stage - Every 6 months
    • Atrophic stage - Every 6 months to yearly
  • Patients in the atrophic stage should routinely use an Amsler grid. Changes in the central visual field should prompt an early visit to evaluate for choroidal neovascularization.
  • The electrophysiology test is usually only necessary once to establish the diagnosis. Initial results remain fairly stable during disease progression.
  • Fluorescein angiography should be performed at any visit if choroidal neovascularization is suspected.

Complications

  • Although uncommon, choroidal neovascularization can occur following the atrophic stage, and it can be responsible for further deterioration in visual acuity. A disciform scar may result.
  • Plaques of white subretinal fibrous tissue can develop in conjunction with the atrophic stage. Visual acuity is often reduced to 20/100 or worse with this appearance.

Prognosis

  • Prognosis for this disease is mixed. Some carriers will never phenotypically express their disorder. Some individuals will never have progression beyond the earliest stages of the disease and will maintain better than 20/40 vision in both eyes. In general, most people will maintain reading vision in at least 1 eye throughout life. In one study, 88% of patients retained 20/40 or better visual acuity, and only 4% of them had 20/200 or worse visual acuity in the better eye. The deterioration of vision usually is very slow and is not significant in most individuals until after age 40 years.

Patient Education

  • Genetic inheritance: Provide an explanation of autosomal dominant inheritance to the patient and family members. In genetic counseling, discuss carrier state, variable penetrance and expressivity, and implications for offspring. Recommend familial evaluation.
  • Occupational counseling: Discuss the patient's prognosis and the possible implications on career direction.
  • Routine examination: Emphasize regular examinations because changes in fundus appearance over time may elucidate the eventual prognosis. Conduct evaluation for choroidal neovascularization.
  • Amsler grid: Teach use of this tool to identify central visual field changes.
  • Low vision aids: Assistive devices may be necessary if visual acuity deteriorates. Refer to a low vision specialist or organization.
  • For excellent patient education resources, visit eMedicine's Eye and Vision Center. Also, see eMedicine's patient education article Macular Degeneration.

Miscellaneous

Medicolegal Pitfalls

  • Genetic counseling is important for the affected individual and extended family. Examination and EOG testing of the family can identify carriers who may then factor this disease into their career and family-planning decisions.
  • EOG testing is highly diagnostic in this disease. Order this test if the diagnosis is in question.
  • Follow-up care/Amsler grid education: If the atrophic stage has been reached, then it is important to teach Amsler grid use to help identify the growth of choroidal neovascular membranes at the earliest juncture.

Special Concerns

  • Institute genetic counseling for the individual and the extended family.
 


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].

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  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].

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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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