J Korean Ophthalmol Soc.  2008 May;49(5):845-852. 10.3341/jkos.2008.49.5.845.

Optical Coherence Tomography Findings in Best Disease

Affiliations
  • 1Department of Ophthalmology, The Catholic University of Korea, College of Medicine, Seoul, Korea.
  • 2Medical Corps, Navy 3rd Fleet, Gyeonggi, Korea.
  • 3Saevit Eye Hospital, Gyeonggi, Korea. kiseok-kim@daum.net

Abstract

PURPOSE: To report the optical coherence tomography (OCT) findings of three cases in various stages of juvenile-onset vitelliform macular dystrophy (Best disease).
CASE SUMMARY
Medical records of six eyes from three patients diagnosed with Best disease were reviewed retrospectively. We evaluated the clinical features of the fundus, the electro-oculogram, and the optical coherence tomography (OCT) results. In the fundi of the three patients with Best disease, the characteristic stages of vitelliform, pseudohypopyon, and scrambled egg appearance were identified. Optical coherence tomography findings in the eyes of the patients with Best disease showed two types of outer retina-choroid complex (ORCC) changes, including splitting with intervening hyporeflective areas and elevation over hyporeflective area.
CONCLUSIONS
The OCT findings showed variable patterns according to the progression of Best disease. In the pseudohypopyon stage, both neurosensory detachment and retinal pigment epithelial detachment appearance were identified. The exact location of the resulting lesions seems to depend on the relative impediment of fluid movement caused by the mutation of bestrophin.

Keyword

Best disease; Optical coherence tomography

MeSH Terms

Eye
Humans
Medical Records
Ovum
Retinal Detachment
Retrospective Studies
Tomography, Optical Coherence
Vitelliform Macular Dystrophy

Figure

  • Figure 1. Case 1. Fundus photographs and optical coherence tomography (OCT) findings of the right eye (A, B) and the left eye (C, D) in a patient with Best disease. Each color-framed OCT finding represents a sectioned view of the retina along the axis of the corresponding color-coded line. (A) Fundus photograph shows a 1.5 disc diameter (DD)-sized homogeneous, round, elevated, well- demarcated, yellowish lesion. (B) Vertical and horizontal central macular OCT illustrates a diffuse thickened ORCC∗ elevation by underlying hyporeflective area. (C) Fundus photograph shows a 1.5 DD-sized round, elevated, yellowish lesion with an irregular margin. (D) Vertical and horizontal central macular OCT illustrates irregularly thickened ORCC∗ elevation. ∗ ORCC = outer retina-choroid complex.

  • Figure 2. Case 2. Fundus photographs and optical coherence tomography (OCT) findings of the right eye (A, B) and the left eye (C, D) in a patient with Best disease. (A) Fundus photograph shows a 1 DD-sized round lesion within which a pseudohypopyon is forming a fluid level. (B) Vertical central macular OCT illustrates a splitting of ORCC∗ by hyporeflective area. The broadened, moderate reflective signal (arrowhead) corresponds to the accumulation of subretinal material. (C) Fundus photograph shows s 1 DD-sized round lesion within which a pseudohypopyon is forming a fluid level. (D) Vertical central macular OCT illustrates a splitting of ORCC∗ by hyporeflective area. The broadened, moderate reflective signal (arrowhead) corresponds to the accumulation of subretinal material. ∗ ORCC = outer retina-choroid complex.

  • Figure 3. Case 3. Fundus photograph and optical coherence tomography (OCT) findings of the right eye (A, B) and the left eye (C, D) in a patient with Best disease. Each color-framed OCT finding represents a sectioned view of the retina along the axis of the corresponding color-coded line. (A) Fundus photograph shows a 1 DD-sized round, elevated, yellowish lesion. Inferior to this lesion, note a well demarcated 3 DD-sized RPE detachment with yellowish precipitate at the inferior margin (B) Vertical central macular OCT (green-coded) illustrates a well defined sub-RPE detachment and moderately reflective (seen as green) tissue corresponding to the yellow precipitate. Horizontal central macular OCT (blue-coded) shows a moderate reflective signal corresponding to the accumulation of sub-RPE material. (C) Fundus photograph shows a 1 DD-sized round, elevated, yellowish lesion with underlying submacular hemorrhage. There is subretinal hemorrhage over the inferior yellowish precipitate at the inferior margin of the 3 DD-sized RPE detachment. (D) Vertical central macular OCT (green-coded) illustrates a well-defined sub-RPE detachment and moderately reflective (seen as green) tissue corresponding to the yellow precipitate. Horizontal inferior OCT (white-coded) shows a moderate reflective signal corresponding to the accumulation of sub-RPE material.


Cited by  1 articles

Choroidal Neovascularization in a Patient with Best Disease
Jae Uk Jung, Yu Min Kim, Yong Koo Kang, Dong Ho Park, Jae Pil Shin
J Korean Ophthalmol Soc. 2019;60(8):808-815.    doi: 10.3341/jkos.2019.60.8.808.


Reference

References

1. Bard LA, Cross HE. Genetic counseling of families with Best macular dystrophy. Trans Sect Ophthalmol Am Acad Ophthalmol Otolaryngol. 1975; 79:865–73.
2. O'Gorman S, Flaherty WA, Fishman GA, Berson EL. Histopathologic findings in Best's vitelliform macular dystrophy. Arch Ophthalmol. 1988; 106:1261–8.
3. François J, De Rouck A, Fernandez-Sasso D. Electro- oculography in vitelliform degeneration of the macula. Arch Ophthalmol. 1967; 77:726–33.
4. Gass JD. Steroscopic atlas of macular disease-diagnosis and treatment. 4th ed.4. St.Louis: Mosby;1997. p. 303–436.
5. Hee MR, Izatt JA, Swanson EA, et al. Optical coherence tomography of the human retina. Arch Ophthalmol. 1995; 113:325–32.
Article
6. Weingeist TA, Kobrin JL, Watzke RC. Histopathology of Best's macular dystrophy. Arch Ophthalmol. 1982; 100:1108–14.
Article
7. Huang Y, Cideciyan AV, Aleman TS, et al. Optical coherence tomography (OCT) abnormalities in rhodopsin mutant transgenic swine with retinal degeneration. Exp Eye Res. 2000; 70:247–51.
Article
8. Vedantham V, Ramasamy K. Optical coherence tomography in Best's disease: An observational case report. Am J Ophthalmol. 2005; 139:351–3.
Article
9. Men G, Batioğ lu F, Ozkan SS, et al. Best's vitelliform macular dystrophy with pseudohypopyon: An Optical coherence tomography study. Am J Ophthalmol. 2004; 137:963–5.
Article
10. Kraushar MF, Margolis S, Morse PH, Nugent ME. Pseudohypopyon in Best's vitelliform macular dystrophy. Am J Ophthalmol. 1982; 94:30–7.
Article
11. Petrukhin K, Koisti MJ, Bakall B, et al. Identification of the gene responsible for Best macular dystrophy. Nat Genet. 1998; 19:241–7.
Article
12. Marmorstein AD, Marmorstein LY, Rayborn M, et al. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral membrane of the retinal pigment epithelium. Proc Natl Acad Sci U S A. 2000; 97:12758–63.
13. Qu Z, Wei RW, Mann W, Hartzell HC. Two bestrophins cloned from Xenopus laevis oocytes express Ca (2+) activated Cl (−) currents. J Biol Chem. 2003; 278:49563–72.
14. Hughes BA, Gallemore RP, Miller SS. Transport mechanisms in the retinal pigment epithelium. Marmor MF, Wolfensberger TJ, editors. The retinal pigment epithelium: Function and disease. 1st ed.New York: Oxford University Press;1998. chap. 6.
15. Tsunenari T, Sun H, Williams J, et al. Structure-function analysis of the bestophin family of anion channels. J Biol Chem. 2003; 278:41114–25.
16. Pianta MJ, Aleman TS, Cideciyan AV, et al. In vivo micropathology of Best macular dystrophy with optical coherence tomography. Exp Eye Res. 2003; 79:203–11.
Article
17. Wabbels B, Presing MN, Kretschmann U, et al. Genotype- phenotpye correlation and longitudinal course in ten families with Best vitelliform macular dystrophy. Graefes Arch Clin Exp Ophthalmol. 2006; 244:1453–66.
18. Kim JY, Lee SY, Kim IT. Angiographic findings in patients with vitelliform macular dystrophy. J Korean Ophthalmol Soc. 2004; 45:1917–26.
Full Text Links
  • JKOS
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr