Best vitelliform macular dystrophy: literature review

• Authors: Brigita Budiene , Rasa Liutkeviciene , Dalia Zaliuniene
• Languages of publication: EN

Abstracts

EN

Best vitelliform macular dystrophy (BVD) is a slowly progressive form of macular dystrophy. In most cases this disease begins in childhood although sometimes it can develop in later age. The diagnosis of BVD is based on family history, clinical and electrophysiological findings. Clinical signs are variable, yet the majority of patients have a typical yellow yolk-like macular lesion in the eye fundus. Lesions are usually bilateral, but in rare cases can be unilateral. Atrophy of the macula may develop after many years. The mutations responsible for Best vitelliform macular dystrophy are found in a gene called VMD2, which encodes a transmembrane protein named bestrophin-1 (hBest1) that is a Ca2+-sensitive chloride channel. Most reported cases causing the disease are in exons 2, 4, 6 and 8 in patients with BVD. In this article we discuss the etiology of Best’s vitelliform macular dystrophy, clinical presentation, diagnostics, genetic and current treatment possibilities.

Keywords

EN

Best vitelliform macular dystrophy; Ethiology; Pathogenesis; Clinics; Genetics

• Publisher: De Gruyter Open
• Journal: Open Medicine
• Year: 2014
• Volume: 9
• Issue: 6
• Pages: 784-795

Dates

published

1 - 12 - 2014

online

16 - 8 - 2014

Contributors

author

Brigita Budiene

• Medical Academy Ophthalmology department, Lithuanian University of Health Sciences, Caunas, Lithuania

author

Rasa Liutkeviciene

author

Dalia Zaliuniene

• Medical Academy Ophthalmology department, Lithuanian University of Health Sciences, Caunas, Lithuania

References

• [1] Best F., Ueber eine herediaere Maculaaffection. Z. Augenheilk, 1905, 13, 199–212
• [2] Yanoff M., Fine BS., Ocular pathology. 5th edn. St Louis: Mosby, 2002
• [3] Mullins RF., Oh KT., Heffron E., et al., Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation. Arch Ophthalmol, 2005, 123, 1588–1594 http://dx.doi.org/10.1001/archopht.123.11.1588[Crossref]
• [4] Renner AB., Tillack H., Kraus H., et al., Late onset is common in best macular dystrophy associated with VMD2 gene mutations. Ophthalmol, 2005, 112:586–592 http://dx.doi.org/10.1016/j.ophtha.2004.10.041[Crossref]
• [5] Sandvig K., Acta Ophthalmol 1955, 33, 71–78 http://dx.doi.org/10.1111/j.1755-3768.1955.tb05111.x[Crossref]
• [6] Booij JC., Boon CJ., van Schooneveld MJ., et al., Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy. Ophthalmol, 2010, 117(7), 1415–1422 http://dx.doi.org/10.1016/j.ophtha.2009.11.044[Crossref]
• [7] Deutman AF., The Hereditary Dystrophies of the Posterior Pole of the Eye. Assen, the Netherlands. Van Gorcum & Co, 1971, 198–299
• [8] Lotery AJ., Munier FL., Fishman GA., et al., Allelic variation in the VMD2 gene in Best disease and age-related macular degeneration. Invest Ophthalmol Vis Sci, 2000, 41, 1291–1296
• [9] Remky H., Rix J., Klier KF., Dominant-autosomal macula degeneration (Best, Sorsby) with cystic and vitelliform stages (Huysmans, Zanen). Klin Monatsbl Augenheilkd, 1965, 146, 473–497
• [10] Skoog K., Nilsson SEG., The c-wave of the electroretinogram in vitelliruptive macular degeneration. Acta Ophthalmol, 1981, 59, 756 [Crossref]
• [11] Shibuya Y., Hayasaka S., Various fundus manifestations in a Japanese family with Best’s vitelliform macular dystrophy. Jpn J Ophthalmol, 1993, 37(4), 478–484
• [12] Galinos SO., Birrer RB., Tsamparlakis J., et al., Multifocal Best’s disease and sickle cell trait. Ann Opthalmol, 1981, 13(10), 1181–1183
• [13] Petrukhin K., Koisti MJ., Bakall B., et al., Identification of the gene responsible for Best macular dystrophy. Nat Genet, 1998, 19, 241–247 http://dx.doi.org/10.1038/915[Crossref]
• [14] Marano F, Deutman AF, Leys A, et al. Hereditary retinal dystrophies and choroidal neovascularization. Graefes Arch Clin Exp Ophthalmol, 2000, 238, 760–764 http://dx.doi.org/10.1007/s004170000186[Crossref]
• [15] Marmorstein AD., Marmorstein LY., Rayborn M., et al., 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 USA, 2000, 97, 12758–12763 http://dx.doi.org/10.1073/pnas.220402097[Crossref]
• [16] Michaelides M., Hunt DM., Moore AT., Review The genetics of inherited macular dystrophies. J Med Genet, 2003, 40(9), 641–650 http://dx.doi.org/10.1136/jmg.40.9.641[Crossref]
• [17] Frangieh GT., A histopathologic study of Best’s macular dystrophy. Arch Ophthalmol, 1982, 100, 1115–1121 http://dx.doi.org/10.1001/archopht.1982.01030040093017[Crossref]
• [18] Qing Z., Kent WS., Hans E., Grossniklaus. Clinicopathologic findings in Best vitelliform macular dystrophy. Graefes Arch Clin Exp Ophthalmol, 2011, 249(5), 745–7515
• [19] Wabbels B., Preising MN., Kretschmann U., et al., Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy. Graefes Arch Clin Exp Ophthalmol, 2006, 244, 1453–1466 http://dx.doi.org/10.1007/s00417-006-0286-6[Crossref]
• [20] Stohr H., Marquardt A., Rivera A., et al., A gene map of the Best’s vitelliform macular dystrophy region in chromosome 11q12–q13.1. Genome Res, 1998, 8, 48–56
• [21] MacDonald IM., Lee T., Best Vitelliform Macular Dystrophy Best Macular Dystrophy, Vitelliform Macular Dystrophy Type 2. Genereviews, 2003
• [22] Stohr H., Marquardt A, Rivera A, et al., A gene map of the Best’s vitelliform macular dystrophy region in chromosome 11q12–q13.1. Genome Res, 1998, Jan;8(1):48–56
• [23] Deutman AF., Electrooculography in families with vitelliform dystrophy of the fovea: Detection of the carrier state. Arch Ophthalmol, 1969, 81(3), 305–316 http://dx.doi.org/10.1001/archopht.1969.00990010307001[Crossref]
• [24] Schachat AP., de la Cruz Z., Green WR., et al., Macular hole and retinal detachment in Best’s disease. Retina, 1985, 5:22 http://dx.doi.org/10.1097/00006982-198500510-00005[Crossref]
• [25] Arthur DF., Everett A., McDonald HR., et al., Hereditary Macular Dystrophies, Chapter 9
• [26] Qing Z., Kent W., Small HE., Grossniklaus et al: Clinicopathologic findings in Best vitelliform macular dystrophy. Graefes Arch Clin Exp Ophthalmol, 2011, 8(1), 48–56
• [27] Besch D., Zrenner E., Best disease. Orphanet Encyclopedia, January 2005
• [28] Jarc-Vidmar M., Popovic P., Hawlina M., Mapping of central visual function by microperimetry and autofluorescence in patients with Best’s vitelliform dystrophy. Eye (Lond). 2006, 20(6), 688–696 http://dx.doi.org/10.1038/sj.eye.6701949[Crossref]
• [29] Fishman GA., Baca W., Alexander KR., al. Visual acuity in patients with best vitelliform macular dystrophy. Ophthalmol, 1993, 100, 1665–1670 http://dx.doi.org/10.1016/S0161-6420(93)31420-X[Crossref]
• [30] Marano F., Deutman AF., Leys A., et al., Hereditary retinal dystrophies and choroidal neovascularization. Graefes Arch Clin Exp Ophthalmol, 2000, 238, 760–764 http://dx.doi.org/10.1007/s004170000186[Crossref]
• [31] Susana ML., Duarte S, Reis A., et al., Retinal function in Best macular dystrophy: relationship between electrophysiological, psychophisical, and structural measures of damage. Invest Ophthalmol Vis Sci, 2008, 49(12), 5553–5560 http://dx.doi.org/10.1167/iovs.08-2093[Crossref]
• [32] Scholl HP., Schuster AM, Vonthein R., et al., Mapping of retinal function in Best macular dystrophy using multifocal electroretinography. Vision Res, 2002, 42, 1053–1061 http://dx.doi.org/10.1016/S0042-6989(02)00034-2[Crossref]
• [33] Francois J., De Rouck A., Fernandez-Sasso D., Electro-oculography in vitelliform degeneration of the macula. Arch Ophthalmol, 1967, 77, 726–733 http://dx.doi.org/10.1001/archopht.1967.00980020728003[Crossref]
• [34] Rudolph G., Kalpadakis P., Topographic mapping of retinal function with the SLO-mfERG under simultaneous control of fixation in Best’s disease. Ophthalmol, 2003, 217, 154–159
• [35] Davidson AE., Millar ID., Urquhart JE., et al., Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa. Am J Hum Genet, 2009, 85, 581–592 http://dx.doi.org/10.1016/j.ajhg.2009.09.015[Crossref]
• [36] Maruko I., Iida T., Spaide RF., Kishi S., Indocyanine green angiography abnormality of the periphery in vitelliform macular dystrophy. Am J Ophthalmol, 2006, 141(5), 976–978 http://dx.doi.org/10.1016/j.ajo.2005.12.046[Crossref]
• [37] Marmorstein AD., Stanton JB., Yocom J., et al., A model of Best vitelliform macular dystrophy in rats. Invest Ophthalmol Vis Sci, 2004, 45, 3733–3739 http://dx.doi.org/10.1167/iovs.04-0307[Crossref]
• [38] Rosenthal R., Bakall B., Kinnick T., et al., Expression of bestrophin-1, the product of the VMD2 gene, modulates voltage-dependent Ca2+ channels in retinal pigment epithelial cells. FASEB J, 2006, 20, 178–180
• [39] Qu Z., Chien LT., Cui Y., et al., The anion-selective pore of the bestrophins, a family of chloride channels associated with retinal degeneration. J Neurosci, 2006, 26, 5411–5419 http://dx.doi.org/10.1523/JNEUROSCI.5500-05.2006[Crossref]
• [40] Hartzell HC., Qu Z., Yu K., et al., Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies. Physiol Rev, 2008, 88, 639–672 http://dx.doi.org/10.1152/physrev.00022.2007[Crossref]
• [41] Marmorstein AD., Cross HE., Peachey NS., Functional roles of bestrophins in ocular epithelia. Prog Retin Eye Res, 2009, 28, 206–226 http://dx.doi.org/10.1016/j.preteyeres.2009.04.004[Crossref]
• [42] Davidson AE., Millar ID., Urquhart JE., et al., Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa. Am J Hum Genet, 2009, 85, 581–592 http://dx.doi.org/10.1016/j.ajhg.2009.09.015[Crossref]
• [43] Querques G., Zerbib J., Santacroce R., et al., The spectrum of subclinical Best Vitelliform macular dystrophy in subjects with mutations in BEST 1 gene. Investigative Ophthalmology & Visual Science, 2011, 52(7), 4678–4684 http://dx.doi.org/10.1167/iovs.10-6500[Crossref]
• [44] Fishman GA., Carrasco C., Fishman M., The electro-oculogram in diffuse (familial) drusen. Arch Ophthalmol, 1976, 94(2), 231–233 http://dx.doi.org/10.1001/archopht.1976.03910030109006[Crossref]
• [45] Blacharski PA., Fundus flavimaculatus. In: Newsome DA, editor. Retinal dystrophies and degenerations. New York: Raven Press, 1988, 135–159
• [46] Kunimoto DY., Kanitkar KD., Makar MS., The Wills Eye Manual. Office and EmergencRoom. Diagnosis and Treatment of Eye Disease, 2004, 284–285
• [47] Piguet B., Heon E., Munier FL., et al., Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene. Ophthalmic Genet, 1996, 17(4), 175–186 http://dx.doi.org/10.3109/13816819609057891[Crossref]
• [48] Nichols BE., Sheffield VC., Vandenburgh K., et al. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet, 1993, 3, 202–307 http://dx.doi.org/10.1038/ng0393-202[Crossref]
• [49] Stone EM., Lotery AJ., Munier FL., et al., A single EFEMP1 mutation associated with both malattia Leventinese and Doyne honeycomb retinal dystrophy. Nature Genet, 1999, 22, 199–202 http://dx.doi.org/10.1038/9722[Crossref]
• [50] Toto L., Parodi MB., Baralle F., et al., Genetic heterogeneity in Malattia Leventinese. Clin Genet, 2002, 62(5), 399–403 http://dx.doi.org/10.1034/j.1399-0004.2002.620508.x[Crossref]
• [51] Haimovici R., Wroblewski J., Piguet B., et al., Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy). Eye, 2002, 16(1), 7–15 http://dx.doi.org/10.1038/sj.eye.6700018[Crossref]
• [52] Gass JD., Drusen and disciform macular detachment and degeneration. Arch Ophthalmol, 1973, 90(3), 206–217 http://dx.doi.org/10.1001/archopht.1973.01000050208006[Crossref]
• [53] Small KW., Udar N., Yelchits S., et al., North Carolina macular dystrophy (MCDR1) locus: A fine resolution genetic map and haplotype analysis. Mol Vis, 1999, 5, 38–42
• [54] Rohrschneider K., Blankenagel A., Kruse FE., et al., Macular function testing in a German pedigree with North Carolina macular dystrophy. Retina, 1998, 18, 453–459 http://dx.doi.org/10.1097/00006982-199805000-00013[Crossref]
• [55] Godley BF., Tiffin PA., Evans K., et al., Clinical features of progressive bifocal chorioretinal atrophy: a retinal dystrophy linked to chromosome 6q. Ophthalmol, 1996, 103(6), 893–898 http://dx.doi.org/10.1016/S0161-6420(96)30590-3[Crossref]
• [56] Jacobson SG., Cideciyan AV., Regunath G., et al., Night blindness in Sorsby’s fundus dystrophy reversed by vitamin A. Nat Genet, 1995, 11(1), 27–32 http://dx.doi.org/10.1038/ng0995-27[Crossref]
• [57] Jacobson SG., Cideciyan AV., Bennett J., et al., Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. Arch Ophthalmol, 2002, 120, 376–379 http://dx.doi.org/10.1001/archopht.120.3.376[Crossref]
• [58] Majid MA., Smith VA., Easty DL., et al., Sorsby’s fundus dystrophy mutant tissue inhibitors of metalloproteinase-3 induce apoptosis of retinal pigment epithelial and MCF-7 cells. FEBS Lett, 2002, 529, 281–285 http://dx.doi.org/10.1016/S0014-5793(02)03359-8[Crossref]
• [59] Sivaprasad S., Webster AR., Egan CA., et al., Clinical course and treatment outcomes of Sorsby fundus dystrophy. Am J Ophthalmol, 2008, 146(2), 228–234 http://dx.doi.org/10.1016/j.ajo.2008.03.024[Crossref]
• [60] Smailhodzic D., Fleckenstein M., Theelen T., et al., Central areolar choroidal dystrophy (CACD) and age-related macular degeneration (AMD): differentiating characteristics in multimodal imaging. Invest Ophthalmol Vis Sci, 2011, 52(12), 8908–8918 http://dx.doi.org/10.1167/iovs.11-7926[Crossref]
• [61] Hogewind BF., Pieters G., Hoyng CB., Octreotide acetate in dominant cystoid macular dystrophy. Eur J Ophthalmol, 2008, 18(1), 99–103
• [62] Bradshaw K., Allen T., Trump D., et al., A comparison of ERG abnormalities in XLRS and XLCSNB. Doc Ophthalmol, 2004, 108, 135–145 http://dx.doi.org/10.1023/B:DOOP.0000036786.22179.44[Crossref]
• [63] Chhablani J., Jalali S., Intravitreal bevacizumab for choroidal neovascularization secondary to Best vitelliform macular dystrophy in a 6-year-old child. Eur J Ophthalmol, 2012, 22(4), 677–679 http://dx.doi.org/10.5301/ejo.5000095[Crossref]
• [64] Chaudhary KM., Ronni MM., Lieberman M., An Evidence-Based Review of Vascular Endothelial Growth Factor Inhibition in Pediatric Retinal Diseases: Part 2. Coats’ Disease, Best Disease, and Uveitis With Childhood Neovascularization. Journal of Pediatric Ophthalmology and Strabismus, 2013, 50(1), 11–19 http://dx.doi.org/10.3928/01913913-20120821-02[Crossref]
• [65] Frennesson CI., Wadelius C., Nilsson SE., Best vitelliform macular dystrophy in a Swedish family: genetic analysis and a seven-year follow-up of photodynamic treatment of a young boy with choroidal neovascularization. Acta Ophthalmol, 2013, Apr 26. doi: 10.1111/aos.12142. [Epub ahead of print] [Crossref]
• [66] http://maculardegenerationassociation.org/information/gene-therapy-for-retinal-disease/
• [67] Kachi S, Oshima Y, Esumi N, et al., Nonviral ocular gene transfer. Gene Ther, 2005, 12(10), 843–851 http://dx.doi.org/10.1038/sj.gt.3302475[Crossref]
• [68] Kachi S., Binley K., Yokoi K., Equine infectious anemia viral vector-mediated codelivery of endostatin and angiostatin driven by retinal pigmented epithelium-specific VMD2 promoter inhibits choroidal neovascularization. Hum Gene Ther, 2009, 20(1), 31–39 http://dx.doi.org/10.1089/hum.2008.046[Crossref]
• [69] http://www.ncbi.nlm.nih.gov/sites/GeneTests/clinic?db=GeneTests
• [70] Piñeiro-Gallego T., Álvarez M., Pereiro I., et al., Clinical evaluation of two consanguineous families with homozygous mutations in BEST1. Mol Vis, 2011, 17, 1607–1617
• [71] Boon CJ., Theelen T., Hoefsloot EH., et al., Clinical and molecular genetic analysis of best vitelliform macular dystrophy. Retina, 2009, 29(6), 835–847 http://dx.doi.org/10.1097/IAE.0b013e31819d4fda[Crossref]
• [72] Weber BH., Walker D., Muller B., Molecular evidence for non-penetrance in Best’s disease. J Med Genet, 1994, 31, 388–392 http://dx.doi.org/10.1136/jmg.31.5.388[Crossref]
• [73] Shatz P., Bitner H., Sander B., et al., Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1. Invest Ophthalmol Vis Sci, 2010, 51(9), 4754–4765 http://dx.doi.org/10.1167/iovs.10-5152[Crossref]
• [74] Burgess R., Millar ID., Leroy BP., et al., Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet, 2008, 82(1), 19–31 http://dx.doi.org/10.1016/j.ajhg.2007.08.004[Crossref]
• [75] Schatz P., Klar J., Andréasson S., Ponjavic V., Dahl N., Variant Phenotype of Best Vitelliform Macular Dystrophy Associated with Compound Heterozygous Mutation in VMD2. Ophthalmic Genet, 2006, 27(2), 51–56 http://dx.doi.org/10.1080/13816810600677990[Crossref]
• [76] Kousal B., Chakarova F., Black GC., Ramsden S., Langrová H., Lisková P., Minimal ocular findings in a patient with Best disease caused by the c.653G>A mutation in BEST1 Cesk Slov Oftalmol, 2011, 67(5–6), 170–174
• [77] Sodi A., Passerini I., Murro V., et al., BEST1 sequence variants in Italian patients with vitelliform macular dystrophy. Mol Vis, 2012, 18, 2736–2748

Identifiers

DOI

10.2478/s11536-013-0333-8