BEST1

Summary

Gene Symbol: BEST1
Description: bestrophin 1
Alias: ARB, BEST, BMD, RP50, TU15B, VMD2, bestrophin-1, Best disease, Best1V1Delta2, vitelliform macular dystrophy protein 2
Species: human
Products:     BEST1

Top Publications

  1. Eksandh L, Bakall B, Bauer B, Wadelius C, Andreasson S. Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. Ophthalmic Genet. 2001;22:107-15 pubmed
    ..clinical phenotype in a family with Best's vitelliform macular dystrophy (BMD) and a new mutation (Val89Ala) in the VMD2 gene. The genotype was determined by direct sequence analysis of the individual exons of VMD2...
  2. Kunzelmann K, Milenkovic V, Spitzner M, Soria R, Schreiber R. Calcium-dependent chloride conductance in epithelia: is there a contribution by Bestrophin?. Pflugers Arch. 2007;454:879-89 pubmed
    ..Mutations in the bestrophin gene cause an autosomal form of macular dystrophy of the retina. Bestrophin 1 is assumed to form the basolateral Ca(2+)-activated Cl(-) channel in the retinal pigment epithelium of the eye...
  3. Schatz P, Klar J, Andreasson S, Ponjavic V, Dahl N. Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. Ophthalmic Genet. 2006;27:51-6 pubmed
    ..characterize the phenotype of members of a Swedish family with Best macular dystrophy and two distinct mutations in VMD2. Venous blood samples were obtained from six family members and screened for mutations in VMD2...
  4. Lotery A, Munier F, Fishman G, Weleber R, Jacobson S, Affatigato L, et al. Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. Invest Ophthalmol Vis Sci. 2000;41:1291-6 pubmed
    To assess the allelic variation of the VMD2 gene in patients with Best disease and age-related macular degeneration (AMD)...
  5. Querques G, Zerbib J, Santacroce R, Margaglione M, Delphin N, Rozet J, et al. Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. Mol Vis. 2009;15:2960-72 pubmed
    To analyze functional and clinical data of Best vitelliform macular dystrophy (VMD) patients with mutations in the BEST1 gene...
  6. Bitner H, Mizrahi Meissonnier L, Griefner G, Erdinest I, Sharon D, Banin E. A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode. Invest Ophthalmol Vis Sci. 2011;52:5332-8 pubmed publisher
    b>Best disease is a monogenic macular degeneration caused mainly by heterozygous mutations in the BEST1 gene...
  7. Marchant D, Yu K, Bigot K, Roche O, Germain A, Bonneau D, et al. New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy. J Med Genet. 2007;44:e70 pubmed
    ..This study provides further support for the idea that mutations in VMD2 are a necessary factor for Best disease. However, because variable expressivity of VMD2 was observed in a family with the Q293H mutation, it is also ..
  8. Burgess R, Millar I, Leroy B, Urquhart J, Fearon I, De Baere E, et al. Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet. 2008;82:19-31 pubmed publisher
    ..However, unlike two other alleles previously associated with Best disease, cotransfection with wild-type bestrophin-1 did not impair the formation of active wild-type bestrophin-1 ..
  9. Caldwell G, Kakuk L, Griesinger I, Simpson S, Nowak N, Small K, et al. Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. Genomics. 1999;58:98-101 pubmed
    Best vitelliform macular dystrophy (VMD2) is an autosomal dominant dystrophy with a juvenile age of onset. Mutations in the Bestrophin gene were shown in patients affected with VMD2...

More Information

Publications68

  1. Bakall B, Marknell T, Ingvast S, Koisti M, Sandgren O, Li W, et al. The mutation spectrum of the bestrophin protein--functional implications. Hum Genet. 1999;104:383-9 pubmed
    b>Best's macular dystrophy (BMD), also known as vitelliform macular degeneration type 2 (VMD2; OMIM 153700), is an autosomal dominant form of macular degeneration with mainly juvenile onset...
  2. Wittström E, Ekvall S, Schatz P, Bondeson M, Ponjavic V, Andreasson S. Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1. Ophthalmic Genet. 2011;32:83-96 pubmed publisher
    ..Genomic DNA was screened for mutation in the BEST1 gene by DNA sequencing analysis. The proband was observed regularly during a follow-up period of 4 years...
  3. Cascavilla M, Querques G, Stenirri S, Battaglia Parodi M, Querques L, Bandello F. Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy. Ophthalmic Res. 2012;48:146-50 pubmed publisher
    It was the aim of this study to report on a patient in whom a novel mutation in the BEST1 gene was responsible for unilateral vitelliform phenotype in autosomal recessive bestrophinopathy (ARB)...
  4. Nordstrom S, Barkman Y. Hereditary maculardegeneration (HMD) in 246 cases traced to one gene-source in central Sweden. Hereditas. 1977;84:163-76 pubmed
  5. Low S, Davidson A, Holder G, Hogg C, Bhattacharya S, Black G, et al. Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study. Mol Vis. 2011;17:2272-82 pubmed
    To describe the clinical and molecular characteristics of two families with autosomal dominant Best disease and atypical electrooculography (EOG). Four affected individuals from two families were ascertained...
  6. Atchaneeyasakul L, Jinda W, Sakolsatayadorn N, Trinavarat A, Ruangvoravate N, Thanasombatskul N, et al. Mutation analysis of the VMD2 gene in thai families with best macular dystrophy. Ophthalmic Genet. 2008;29:139-44 pubmed publisher
    To identify genetic mutations of the VMD2 gene in two Thai families with Best macular dystrophy...
  7. Lacassagne E, Dhuez A, Rigaudiere F, Dansault A, Vêtu C, Bigot K, et al. Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy. Mol Vis. 2011;17:309-22 pubmed
    ..eight at-risk members of a family, including a BVMD-affected proband, by direct sequencing of 11 bestrophin-1 (BEST1) exons...
  8. Mullins R, Kuehn M, Faidley E, Syed N, Stone E. Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease. Invest Ophthalmol Vis Sci. 2007;48:3372-80 pubmed
    b>Best disease, or vitelliform macular degeneration, is an autosomal dominant form of macular degeneration that is caused by mutations in the gene encoding bestrophin...
  9. Sodi A, Passerini I, Simonelli F, Testa F, Menchini U, Torricelli F. A novel mutation in the VMD2 gene in an Italian family with Best maculopathy. J Fr Ophtalmol. 2007;30:616-20 pubmed
    Vitelliform macular dystrophy (Best disease) is an inherited macular degeneration in which the primary defect is thought to occur at the level of the retinal pigment epithelium...
  10. Boon C, Klevering B, Leroy B, Hoyng C, Keunen J, den Hollander A. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res. 2009;28:187-205 pubmed publisher
    Bestrophin-1 is an integral membrane protein, encoded by the BEST1 gene, which is located in the basolateral membrane of the retinal pigment epithelium...
  11. Marmorstein A, Marmorstein L, Rayborn M, Wang X, Hollyfield J, 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;97:12758-63 pubmed
    ..Although the vitelliform lesion is common in the fundus of individuals with Best disease, diagnosis is based on a reduced ratio of the light peak to dark trough in the electrooculogram...
  12. White K, Marquardt A, Weber B. VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. Hum Mutat. 2000;15:301-8 pubmed
    Mutations in the gene VMD2 are associated with autosomal dominant vitelliform macular dystrophy (Best disease)...
  13. Wong R, Hou P, Choy K, Chiang S, Tam P, Li H, et al. Novel and homozygous BEST1 mutations in Chinese patients with Best vitelliform macular dystrophy. Retina. 2010;30:820-7 pubmed publisher
    The purpose of this study was to investigate the BEST1 gene mutations in Chinese patients with Best vitelliform macular dystrophy (BVMD)...
  14. Marquardt A, Stohr H, Passmore L, Kramer F, Rivera A, Weber B. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). Hum Mol Genet. 1998;7:1517-25 pubmed
    Vitelliform macular dystrophy (Best's disease) is an autosomal dominant, early-onset form of macular degeneration in which the primary defect is thought to occur at the level of the retinal pigment epithelium...
  15. Davidson A, Millar I, Urquhart J, Burgess Mullan R, Shweikh Y, Parry N, et al. Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet. 2009;85:581-92 pubmed publisher
    ..Mutations in the BEST1 gene cause the retinal dystrophies vitelliform macular dystrophy, autosomal-dominant vitreochoroidopathy, and ..
  16. Piñeiro Gallego T, Alvarez M, Pereiro I, Campos S, Sharon D, Schatz P, et al. Clinical evaluation of two consanguineous families with homozygous mutations in BEST1. Mol Vis. 2011;17:1607-17 pubmed
    ..families with Best vitelliform macular dystrophy (BVMD) and homozygous mutations in the bestrophin-1 (BEST1) gene...
  17. Yu K, Cui Y, Hartzell H. The bestrophin mutation A243V, linked to adult-onset vitelliform macular dystrophy, impairs its chloride channel function. Invest Ophthalmol Vis Sci. 2006;47:4956-61 pubmed
    It has been proposed that Best vitelliform macular dystrophy (BVMD) is caused by dysfunction in the Cl(-) channel function of human bestrophin-1 (hBest1), but some patients with BVMD who have the hBest1 A243V mutation have normal electro-..
  18. Barro Soria R, Spitzner M, Schreiber R, Kunzelmann K. Bestrophin-1 enables Ca2+-activated Cl- conductance in epithelia. J Biol Chem. 2009;284:29405-12 pubmed
    ..Here, we demonstrate molecular and functional expression of bestrophin-1 (BEST1) in mouse and human airways, colon, and kidney...
  19. Schatz P, Bitner H, Sander B, Holfort S, Andreasson S, Larsen M, 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;51:4754-65 pubmed publisher
    To analyze retinal structure and function in vitelliform macular dystrophy (VMD) due to mutations in BEST1. Patients from five Swedish and four Danish families were examined with electrooculography (EOG), full-field electroretinography (..
  20. Milenkovic V, Krejcova S, Reichhart N, Wagner A, Strauss O. Interaction of bestrophin-1 and Ca2+ channel ?-subunits: identification of new binding domains on the bestrophin-1 C-terminus. PLoS ONE. 2011;6:e19364 pubmed publisher
    ..In summary, we described new proline-rich motifs on bestrophin-1 C-terminus, which help to maintain the ability of ?-subunits to regulate surface expression of pore-forming Ca(V) Ca(2+)-channel subunits. ..
  21. Allikmets R, Seddon J, Bernstein P, Hutchinson A, Atkinson A, Sharma S, et al. Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. Hum Genet. 1999;104:449-53 pubmed
    Vitelliform macular dystrophy (VMD2, Best disease, MIM153700) is an early onset, autosomal, dominant macular degeneration characterized by the deposition of lipofuscin-like material within and below the retinal pigment epithelium (RPE); ..
  22. Boon C, Theelen T, Hoefsloot E, van Schooneveld M, Keunen J, Cremers F, et al. Clinical and molecular genetic analysis of best vitelliform macular dystrophy. Retina. 2009;29:835-47 pubmed publisher
    ..In addition, molecular genetic analysis of the BEST1 gene was performed in all patients. We examined 40 eyes of 20 patients with BVMD...
  23. Iannaccone A, Kerr N, Kinnick T, Calzada J, Stone E. Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications. Arch Ophthalmol. 2011;129:211-7 pubmed publisher
    To report a child with early-onset autosomal recessive Best vitelliform macular dystrophy and compound heterozygous BEST1 mutations, the management of a choroidal neovascular membrane with intravitreal bevacizumab in the proband, the ..
  24. Qu Z, Cheng W, Cui Y, Zheng J. Human disease-causing mutations disrupt an N-C-terminal interaction and channel function of bestrophin 1. J Biol Chem. 2009;284:16473-81 pubmed publisher
    Mutations in the human bestrophin 1 (hBest1) chloride channel cause Best vitelliform macular dystrophy...
  25. Xiao Q, Yu K, Cui Y, Hartzell H. Dysregulation of human bestrophin-1 by ceramide-induced dephosphorylation. J Physiol. 2009;587:4379-91 pubmed publisher
    ..Mutations in Best1 have also been linked to several other forms of retinopathy...
  26. Vincent A, McAlister C, Vandenhoven C, Heon E. BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies. Eye (Lond). 2011;25:113-8 pubmed publisher
    To describe the spectrum of phenotypic characteristics of BEST1-related autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a family with p.V86M mutation...
  27. Meunier I, Sénéchal A, Dhaenens C, Arndt C, Puech B, Defoort Dhellemmes S, et al. Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis. Ophthalmology. 2011;118:1130-6 pubmed publisher
    To evaluate a genetic approach of BEST1 and PRPH2 screening according to age of onset, family history, and Arden ratio in patients with juvenile vitelliform macular dystrophy (VMD2) or adult-onset vitelliform macular dystrophy (AVMD), ..
  28. Davidson A, Millar I, Burgess Mullan R, Maher G, Urquhart J, Brown P, et al. Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. Invest Ophthalmol Vis Sci. 2011;52:3730-6 pubmed publisher
    ..macular and retinal pigmented epithelium function resulting from homozygous or compound heterozygous mutations in BEST1. In this study we characterize the functional implications of missense bestrophin-1 mutations that cause ARB by ..
  29. Yardley J, Leroy B, Hart Holden N, Lafaut B, Loeys B, Messiaen L, et al. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci. 2004;45:3683-9 pubmed
    ..To investigate the genetic basis of autosomal dominant vitreoretinochoroidopathy (ADVIRC), a rare, inherited retinal dystrophy that may be associated with defects of ocular development, including nanophthalmos...
  30. Tsunenari T, Sun H, Williams J, Cahill H, Smallwood P, Yau K, et al. Structure-function analysis of the bestrophin family of anion channels. J Biol Chem. 2003;278:41114-25 pubmed
    ..These experiments provide the first structural analysis of the bestrophin channel family. ..
  31. Macdonald I, Gudiseva H, Villanueva A, Greve M, Caruso R, Ayyagari R. Phenotype and genotype of patients with autosomal recessive bestrophinopathy. Ophthalmic Genet. 2012;33:123-9 pubmed publisher
    ..Patients with compound heteroyzygous Best1 mutations developed atypical forms of Best disease. Two siblings with homozygous Arg141His mutation developed symptoms of typical Best vitelliform dystrophy while ..
  32. Sun H, Tsunenari T, Yau K, Nathans J. The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc Natl Acad Sci U S A. 2002;99:4008-13 pubmed
    Vitelliform macular dystrophy (VMD/Best disease; MIM*153700) is an early-onset autosomal dominant disorder in which accumulation of lipofuscin-like material within and beneath the retinal pigment epithelium is associated with a ..
  33. Palomba G, Rozzo C, Angius A, Pierrottet C, Orzalesi N, Pirastu M. A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case. Am J Ophthalmol. 2000;129:260-2 pubmed
    To report the molecular characterization of a novel VMD2 mutation causing a Best macular dystrophy sporadic case...
  34. Boon C, van den Born L, Visser L, Keunen J, Bergen A, Booij J, et al. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. Ophthalmology. 2013;120:809-20 pubmed publisher
    To describe the clinical and genetic characteristics of patients with autosomal recessive bestrophinopathy (ARB).
  35. Burgess R, MacLaren R, Davidson A, Urquhart J, Holder G, Robson A, et al. ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. J Med Genet. 2009;46:620-5 pubmed publisher
    ..or abolished splicing in an ESE-dependent splice assay compared with a nearby exon 6 mutation associated with Best disease (c.703G-->C)...
  36. Sharon D, Al Hamdani S, Engelsberg K, Mizrahi Meissonnier L, Obolensky A, Banin E, et al. Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene. Am J Ophthalmol. 2014;157:697-709.e1-2 pubmed publisher
    ..To investigate the genetic cause and perform a comprehensive clinical analysis of a Danish family with autosomal recessive bestrophinopathy; to investigate whether Bestrophin may be expressed in normal human retina...
  37. Petrukhin K, Koisti M, Bakall B, Li W, Xie G, Marknell T, et al. Identification of the gene responsible for Best macular dystrophy. Nat Genet. 1998;19:241-7 pubmed
    Best macular dystrophy (BMD), also known as vitelliform macular dystrophy (VMD2; OMIM 153700), is an autosomal dominant form of macular degeneration characterized by an abnormal accumulation of lipofuscin within and beneath the retinal ..
  38. Marchant D, Gogat K, Boutboul S, Pequignot M, Sternberg C, Dureau P, et al. Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy. Hum Mutat. 2001;17:235 pubmed
    ABSTRACT We report five novel VMD2 mutations in Best's macular dystrophy patients (S16F, I73N, R92H, V235L, and N296S). An SSCP analysis of the VMD2 11 exons revealed electrophoretic mobility shifts exclusively in exons 2, 3, 4, 6 and 8...
  39. Renner A, Tillack H, Kraus H, Kramer F, Mohr N, Weber B, et al. Late onset is common in best macular dystrophy associated with VMD2 gene mutations. Ophthalmology. 2005;112:586-92 pubmed
    ..a detailed morphologic and functional evaluation of Best macular dystrophy (BMD) associated with mutations in the VMD2 gene. Retrospective study...
  40. Wabbels B, Preising M, Kretschmann U, Demmler A, Lorenz B. Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy. Graefes Arch Clin Exp Ophthalmol. 2006;244:1453-66 pubmed
    ..We identified seven different heterozygous mutations in ten unrelated families with Best disease. I296del was the most frequent mutation...
  41. Stone E, Nichols B, Streb L, Kimura A, Sheffield V. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nat Genet. 1992;1:246-50 pubmed
    Macular degeneration is the most common cause of legal blindness in older patients in developed countries. Best's vitelliform dystrophy is an early-onset, autosomal dominant form of macular degeneration characterized by an egg-yolk-like ..
  42. Sohn E, Francis P, Duncan J, Weleber R, Saperstein D, Farrell D, et al. Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy. Arch Ophthalmol. 2009;127:913-20 pubmed publisher
    ..A disproportionate fraction (26%) of Best disease-causing mutations occurs in exon 8, suggesting that the portion of protein encoded by this exon (amino acids ..
  43. Pomares E, Burés Jelstrup A, Ruiz Nogales S, Corcostegui B, Gonzalez Duarte R, Navarro R. Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families. Invest Ophthalmol Vis Sci. 2012;53:532-7 pubmed publisher
    To characterize the molecular basis of two novel BEST1 mutations causing autosomal recessive bestrophinopathy (ARB)...
  44. Sodi A, Menchini F, Manitto M, Passerini I, Murro V, Torricelli F, et al. Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients. Mol Vis. 2011;17:3078-87 pubmed
    To report on the phenotype and the genotype of Italian patients carrying BEST1 mutations on both alleles...
  45. Wittström E, Ponjavic V, Bondeson M, Andreasson S. Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy. Ophthalmic Genet. 2011;32:217-27 pubmed publisher
    ..In addition molecular genetic analysis of the bestrophin-1 gene (BEST1), the microphthalmia-associated transcription factor gene (MITF) and the cone-rod homeobox gene (CRX) were ..
  46. Qu Z, Chien L, Cui Y, Hartzell H. The anion-selective pore of the bestrophins, a family of chloride channels associated with retinal degeneration. J Neurosci. 2006;26:5411-9 pubmed
    Mutations in human bestrophin-1 (VMD2) are genetically linked to a juvenile form of macular degeneration and autosomal dominant vitreoretinochoroidopathy...
  47. Milenkovic V, Rivera A, Horling F, Weber B. Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane. J Biol Chem. 2007;282:1313-21 pubmed
    The vitelliform macular dystrophy type 2 (VMD2) gene mutated in Best macular dystrophy encodes a 585-amino acid putative transmembrane protein termed bestrophin-1...
  48. Davidson A, Sergouniotis P, Burgess Mullan R, Hart Holden N, Low S, Foster P, et al. A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1. Mol Vis. 2010;16:2916-22 pubmed
    ..bestrophinopathy (ARB) is a newly defined retinal dystrophy caused by biallelic mutations in bestrophin-1 (BEST1) and is hypothesized to represent the null bestrophin-1 phenotype in humans...
  49. Xiao Q, Hartzell H, Yu K. Bestrophins and retinopathies. Pflugers Arch. 2010;460:559-69 pubmed publisher
    b>Best vitelliform macular dystrophy (BVMD, also called Best's disease) is a dominantly inherited, juvenile-onset form of macular degeneration, which is characterized by abnormal accumulation of yellow pigment in the outer retina and a ..
  50. Kranjc A, Grillo F, Rievaj J, Boccaccio A, Pietrucci F, Menini A, et al. Regulation of bestrophins by Ca2+: a theoretical and experimental study. PLoS ONE. 2009;4:e4672 pubmed publisher
    ..Based on these considerations, we constructed homology models of human bestrophin-1 (Best1) Asp-rich domain using human thrombospondin-1 X-ray structure as a template...
  51. Kinnick T, Mullins R, Dev S, Leys M, Mackey D, Kay C, et al. Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. Retina. 2011;31:581-95 pubmed publisher
    ..with a clinical diagnosis of vitelliform macular dystrophy and screened for mutations in the coding sequences of BEST1. Medical records and retinal photographs of selected patients were reviewed...
  52. Boon C, Klevering B, den Hollander A, Zonneveld M, Theelen T, Cremers F, et al. Clinical and genetic heterogeneity in multifocal vitelliform dystrophy. Arch Ophthalmol. 2007;125:1100-6 pubmed
    ..an ophthalmic examination and their genomic DNA was analyzed for mutations in the vitelliform macular dystrophy 2 (VMD2) gene. Patients who did not have a mutation in the VMD2 gene were screened for mutations in the peripherin/RDS gene...
  53. Duta V, Szkotak A, Nahirney D, Duszyk M. The role of bestrophin in airway epithelial ion transport. FEBS Lett. 2004;577:551-4 pubmed
    ..The data indicate that the presence of a functional bestrophin may contribute to the basolateral cell conductance in airway epithelial cells. ..
  54. Marmorstein L, McLaughlin P, Stanton J, Yan L, Crabb J, Marmorstein A. Bestrophin interacts physically and functionally with protein phosphatase 2A. J Biol Chem. 2002;277:30591-7 pubmed
    ..It is encoded by the VMD2 gene, which is mutated in Best macular dystrophy, a disease characterized by a depressed light peak in the electrooculogram...
  55. Stohr H, Marquardt A, Nanda I, Schmid M, Weber B. Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family. Eur J Hum Genet. 2002;10:281-4 pubmed
    ..The VMD2 gene underlying Best disease was shown to represent the first human member of the RFP-TM protein family...
  56. Qu Z, Hartzell H. Bestrophin Cl- channels are highly permeable to HCO3-. Am J Physiol Cell Physiol. 2008;294:C1371-7 pubmed publisher
    Bestrophin-1 (Best1) is a Cl(-) channel that is linked to various retinopathies in both humans and dogs...
  57. Xiao Q, Prussia A, Yu K, Cui Y, Hartzell H. Regulation of bestrophin Cl channels by calcium: role of the C terminus. J Gen Physiol. 2008;132:681-92 pubmed publisher
    ..Many of the approximately 100 disease-causing mutations in hBest1 are located in this region that we have implicated in Ca(2+) sensing, suggesting that these mutations disrupt hBest1 channel gating by Ca(2+). ..
  58. Kramer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, et al. Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. Eur J Hum Genet. 2000;8:286-92 pubmed
    ..the VMD2 gene has been identified as the causative gene in juvenile-onset vitelliform macular dystrophy (Best disease), a central retinopathy primarily characterised by an impaired function of the retinal pigment epithelium...
  59. Marmorstein A, Cross H, Peachey N. Functional roles of bestrophins in ocular epithelia. Prog Retin Eye Res. 2009;28:206-26 pubmed publisher
    ..The gene BEST1 (formerly VMD2) which encodes the protein bestrophin-1 (Best1) was first identified in 1998...