eMedicine Specialties > Ophthalmology > Retina

Best Disease: Multimedia

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

Multimedia

Classic egg-yolk appearance in the second (vitell...
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Media file 1: 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.
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Classic egg-yolk appearance in the second (vitell...

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 t...
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Media file 2: 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.
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The pseudohypopyon (stage 3) lesion is found in t...

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 b...
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Media file 3: The atrophic stage (stage 5) may be accompanied by the deposition of pigment or choroidal neovascularization, both of which can lead to visual deterioration.
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The atrophic stage (stage 5) may be accompanied b...

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 f...
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Media file 4: 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.
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The scrambled egg appearance of stage 4 results f...

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 Bes...
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Media file 5: 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.
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Adult vitelliform macular dystrophy resembles Bes...

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 re...
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Media file 6: 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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The fluorescein angiogram of the latter lesion re...

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.

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

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

  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].

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

  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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