Skip to main content
Top
Published in: BMC Ophthalmology 1/2012

Open Access 01-12-2012 | Case report

Atypical vitelliform macular dystrophy misdiagnosed as chronic central serous chorioretinopathy: case reports

Authors: Young Seob Lee, Eung-Suk Kim, Moosang Kim, Young-Gyun Kim, Hyung-Woo Kwak, Seung-Young Yu

Published in: BMC Ophthalmology | Issue 1/2012

Login to get access

Abstract

Background

To report two cases of atypical vitelliform macular dystrophy misdiagnosed as chronic central serous chorioretinopathy.

Case presentation

Two patients with incidentally discovered abnormalities of the retina without specific symptoms were referred to our hospital for consultation. Bilateral macula atrophic lesions were observed and optical coherence tomography revealed serous retinal detachment in the macula. Fluorescein angiography showed multiple leakages around the central hypofluorescent area and indocyanine green angiography showed partially dilated choroidal vessels. Fundus autofluorescence (FAF) showed a decreasing pattern of autofluorescence in the subretinal fluid area, and increasing autofluorescence at the border of the serous retinal detachment. Both patients were diagnosed with chronic central serous chorioretinopathy. Photodynamic therapy and intravitreal bevacizumab injection were administered for engorged choroidal vessels during follow-up, but neither patient showed improvement in symptoms or ophthalmologic findings. Based on re-evaluation by fundus photography, optical coherence tomography, fluorescein angiography, and comparison of the results of FAF with the first visit, vitelliform macular dystrophy was suspected and a definite diagnosis was made by electrooculography and genetic testing.

Conclusion

In patients with continuous serous retinal detachment without response to photodynamic therapy or intravitreal bevacizumab injection, careful fundus exam and FAF can be used to diagnose atypical vitelliform macular dystrophy.
Appendix
Available only for authorised users
Literature
1.
go back to reference Forsman K, Graff C, Nordström S, Johansson K, Westermark E, Lundgren E, et al: The gene for Best’s macular dystrophy is located at 11q13 in a Swedish family. Clin Genet. 1992, 42: 156-159.CrossRefPubMed Forsman K, Graff C, Nordström S, Johansson K, Westermark E, Lundgren E, et al: The gene for Best’s macular dystrophy is located at 11q13 in a Swedish family. Clin Genet. 1992, 42: 156-159.CrossRefPubMed
2.
go back to reference Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC: Genetic linkage of vitelliform macular degeneration (Best’s disease) to chromosome 11q13. Nat Genet. 1992, 1: 246-250. 10.1038/ng0792-246.CrossRefPubMed Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC: Genetic linkage of vitelliform macular degeneration (Best’s disease) to chromosome 11q13. Nat Genet. 1992, 1: 246-250. 10.1038/ng0792-246.CrossRefPubMed
3.
go back to reference Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, et al: Identification of the gene responsible for Best dystrophy. Nat Genet. 1998, 19: 241-247. 10.1038/915.CrossRefPubMed Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, et al: Identification of the gene responsible for Best dystrophy. Nat Genet. 1998, 19: 241-247. 10.1038/915.CrossRefPubMed
4.
go back to reference Marmorstein AD, Marmorstein LY, Rayborn M, Wang X, Hollyfield JG, Petrukhin K: Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. Proc Natl Acad Sci U S A. 2000, 97: 12758-12763. 10.1073/pnas.220402097.CrossRefPubMedPubMedCentral Marmorstein AD, Marmorstein LY, Rayborn M, Wang X, Hollyfield JG, Petrukhin K: Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. Proc Natl Acad Sci U S A. 2000, 97: 12758-12763. 10.1073/pnas.220402097.CrossRefPubMedPubMedCentral
5.
go back to reference Sun H, Tsunenari T, Yau KW, Nathans J: The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc Natl Acad Sci U S A. 2002, 99: 4008-4013. 10.1073/pnas.052692999.CrossRefPubMedPubMedCentral Sun H, Tsunenari T, Yau KW, Nathans J: The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc Natl Acad Sci U S A. 2002, 99: 4008-4013. 10.1073/pnas.052692999.CrossRefPubMedPubMedCentral
6.
go back to reference Gass JDM: Stereoscopic Atlas of Macular Disease: Diagnosis and Treatment. 1997, St. Louis: Mosby, 304-311. 4 Gass JDM: Stereoscopic Atlas of Macular Disease: Diagnosis and Treatment. 1997, St. Louis: Mosby, 304-311. 4
7.
go back to reference Deutman AF, Hoyng CB: Macular dystrophies. Edited by: Ryan SJ, Ogden TE, Hinton DR, Schachat AP. 2001, St. Louis: Mosby, 1210-1257. 3 Deutman AF, Hoyng CB: Macular dystrophies. Edited by: Ryan SJ, Ogden TE, Hinton DR, Schachat AP. 2001, St. Louis: Mosby, 1210-1257. 3
8.
go back to reference Boon CJ, Klevering BJ, Leroy BP, Hoyng CB, Keunen JE, den Hollander AI: The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res. 2009, 28: 187-205. 10.1016/j.preteyeres.2009.04.002.CrossRefPubMed Boon CJ, Klevering BJ, Leroy BP, Hoyng CB, Keunen JE, den Hollander AI: The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res. 2009, 28: 187-205. 10.1016/j.preteyeres.2009.04.002.CrossRefPubMed
9.
go back to reference Booij JC, Boon CJ, van Schooneveld MJ, ten Brink JB, Bakker A, de Jong PT, et al: Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy. Ophthalmology. 2010, 117: 1415-1422. 10.1016/j.ophtha.2009.11.044.CrossRefPubMed Booij JC, Boon CJ, van Schooneveld MJ, ten Brink JB, Bakker A, de Jong PT, et al: Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy. Ophthalmology. 2010, 117: 1415-1422. 10.1016/j.ophtha.2009.11.044.CrossRefPubMed
10.
12.
go back to reference Spaide RF, Noble K, Morgan A, Freund KB: Vitelliform macular dystrophy. Ophthalmology. 2006, 113: 1392-1400. 10.1016/j.ophtha.2006.03.023.CrossRefPubMed Spaide RF, Noble K, Morgan A, Freund KB: Vitelliform macular dystrophy. Ophthalmology. 2006, 113: 1392-1400. 10.1016/j.ophtha.2006.03.023.CrossRefPubMed
13.
go back to reference Chung JE, Spaide RF: Fundus autofluorescence and vitelliform macular dystrophy. Arch Ophthalmol. 2004, 122: 1078-1079. 10.1001/archopht.122.7.1078.CrossRefPubMed Chung JE, Spaide RF: Fundus autofluorescence and vitelliform macular dystrophy. Arch Ophthalmol. 2004, 122: 1078-1079. 10.1001/archopht.122.7.1078.CrossRefPubMed
14.
go back to reference Deutman AF: Electro-oculography in families with vitelliform dystrophy of the fovea. Detection of the carrier state. Arch Ophthalmol. 1969, 81: 305-316. 10.1001/archopht.1969.00990010307001.CrossRefPubMed Deutman AF: Electro-oculography in families with vitelliform dystrophy of the fovea. Detection of the carrier state. Arch Ophthalmol. 1969, 81: 305-316. 10.1001/archopht.1969.00990010307001.CrossRefPubMed
15.
go back to reference Andrade RF, Farah ME, Costa RA: Photodynamic therapy with verteporfin for subfoveal choroidal neovascularization in best disease. Am J Ophthalmol. 2003, 136: 1179-1181. 10.1016/S0002-9394(03)00711-6.CrossRefPubMed Andrade RF, Farah ME, Costa RA: Photodynamic therapy with verteporfin for subfoveal choroidal neovascularization in best disease. Am J Ophthalmol. 2003, 136: 1179-1181. 10.1016/S0002-9394(03)00711-6.CrossRefPubMed
16.
go back to reference Leu J, Schrage NF, Degenring RF: Choroidal neovascularization secondary to Best’s disease in a 13-year-old boy treated by intravitreal bevacizumab. Graefes Arch Clin Exp Ophthalmol. 2007, 245: 1723-1725. 10.1007/s00417-007-0604-7.CrossRefPubMed Leu J, Schrage NF, Degenring RF: Choroidal neovascularization secondary to Best’s disease in a 13-year-old boy treated by intravitreal bevacizumab. Graefes Arch Clin Exp Ophthalmol. 2007, 245: 1723-1725. 10.1007/s00417-007-0604-7.CrossRefPubMed
17.
go back to reference Puche N, Querques G, Benhamou N, Tick S, Mimoun G, Martinelli D, et al: High-resolution spectral domain optical coherence tomography features in adult onset foveomacular vitelliform dystrophy. Br J Ophthalmol. 2010, 94: 1190-1196. 10.1136/bjo.2009.175075.CrossRefPubMed Puche N, Querques G, Benhamou N, Tick S, Mimoun G, Martinelli D, et al: High-resolution spectral domain optical coherence tomography features in adult onset foveomacular vitelliform dystrophy. Br J Ophthalmol. 2010, 94: 1190-1196. 10.1136/bjo.2009.175075.CrossRefPubMed
18.
go back to reference O’Gorman S, Flaherty WA, Fishman GA, Berson EL: Histopathologic findings in Best’s vitelliform macular dystrophy. Arch Ophthalmol. 1988, 106: 1261-1268. 10.1001/archopht.1988.01060140421045.CrossRefPubMed O’Gorman S, Flaherty WA, Fishman GA, Berson EL: Histopathologic findings in Best’s vitelliform macular dystrophy. Arch Ophthalmol. 1988, 106: 1261-1268. 10.1001/archopht.1988.01060140421045.CrossRefPubMed
19.
go back to reference Renner AB, Tillack H, Kraus H, Kohl S, Wissinger B, Mohr N, et al: Morphologic and functional charateristics in adult vitelliform macular dystrophy. Retina. 2004, 24: 929-939. 10.1097/00006982-200412000-00014.CrossRefPubMed Renner AB, Tillack H, Kraus H, Kohl S, Wissinger B, Mohr N, et al: Morphologic and functional charateristics in adult vitelliform macular dystrophy. Retina. 2004, 24: 929-939. 10.1097/00006982-200412000-00014.CrossRefPubMed
Metadata
Title
Atypical vitelliform macular dystrophy misdiagnosed as chronic central serous chorioretinopathy: case reports
Authors
Young Seob Lee
Eung-Suk Kim
Moosang Kim
Young-Gyun Kim
Hyung-Woo Kwak
Seung-Young Yu
Publication date
01-12-2012
Publisher
BioMed Central
Published in
BMC Ophthalmology / Issue 1/2012
Electronic ISSN: 1471-2415
DOI
https://doi.org/10.1186/1471-2415-12-25

Other articles of this Issue 1/2012

BMC Ophthalmology 1/2012 Go to the issue