Best Disease Workup

  • Author: Michael Altaweel, MD, FRCS(C); Chief Editor: Hampton Roy Sr, MD   more...
 
Updated: Feb 11, 2010
 

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; this is shown in the image below. If a choroidal neovascular membrane develops, then a corresponding area of hyperfluorescence with leakage will be found in fluorescein or indocyanine green angiography.[6, 14] The fluorescein angiogram of the latter lesion revThe 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.
  • Fundus photography is useful for documentation and follow-up of fundus lesions.
  • Optical coherence tomography demonstrates abnormality in the region between the RPE and the inner segment/outer segment line visualized on high resolution studies. Later stages involving atrophy are identified on the OCT as well.[15]
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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.[16] No correlation exists between EOG result and disease stage, visual acuity, or patient age. EOG results are usually symmetric for both eyes.[17]
    • 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, reveals abnormal function corresponding to the area of anatomical disruption.[18]
  • Genetic testing: This disorder has been mapped to a genetic defect in chromosome 11 (region q12-q13.1).[19, 20, 21, 22]
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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.[23, 4]

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Staging

See Physical.

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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.

Specialty Editor Board

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.

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.

Steve Charles, MD  Director of Charles Retina Institute; Clinical Professor, Department of Ophthalmology, University of Tennessee College of Medicine; Adjunct Professor of Ophthalmology, Columbia College of Physicians & Surgeons; Clinical Professor Ophthalmology, Chinese University of Hong Kong

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; OptiMedica Ownership interest Consulting

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.

References

  1. Best F. Ubereine hereditare Maculaaffektion. Beitrage zur Vererbungslehre. Augenheilkd. 1905;13:199.

  2. 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].

  3. 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. Apr 2008;88(2):639-72. [Medline].

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

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

  6. 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].

  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. Mar 1990;11(1):49-59. [Medline].

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

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

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

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

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

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

  15. 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. Oct 2008;146(4):501-507. [Medline].

  16. 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].

  17. 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].

  18. Glybina IV, Frank RN. Localization of multifocal electroretinogram abnormalities to the lesion site: findings in a family with Best disease. Arch Ophthalmol. Nov 2006;124(11):1593-600. [Medline].

  19. 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].

  20. 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].

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

  22. 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].

  23. 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].

  24. Mohler CW, Fine SL. Long-term evaluation of patients with Best's vitelliform dystrophy. Ophthalmology. Jul 1981;88(7):688-92. [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.
 
 
 
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