Childhood-onset autosomal recessive bestrophinopathy

Archives of Ophthalmology

Volumn 129, Issue 8, 2011, Pages 1088-1093

  Dev Borman, Arundhati ^a,c   Davidson, Alice E ^a,e   O'Sullivan, James ^f   Thompson, Dorothy A ^b,d   Robson, Anthony G ^c   De Baere, Elfride ^h   Black, Graeme C M ^g   Webster, Andrew R ^a,c   Holder, Graham E ^c   Leroy, Bart P ^h   Manson, Forbes D C ^e   Moore, Anthony T ^a,c,d  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c MOORFIELDS EYE HOSPITAL   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e UNIVERSITY OF MANCHESTER   (United Kingdom)

^f ST MARY S HOSPITAL   (United Kingdom)

^g UNIVERSITY OF MANCHESTER   (United Kingdom)

^h GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOFLUORESCENCE IMAGING; AUTOSOMAL RECESSIVE BESTROPHINOPATHY; AUTOSOMAL RECESSIVE DISORDER; CHILDHOOD DISEASE; CLINICAL ARTICLE; EYE DISEASE; FEMALE; GENETIC ASSOCIATION; HUMAN; HYPERMETROPIA; MALE; MISSENSE MUTATION; OPTICAL COHERENCE TOMOGRAPHY; PRIORITY JOURNAL; RETINA DETACHMENT; RETINA MACULA EDEMA; RETINA MACULA VITELLIFORM DEGENERATION; RETINA MACULOPATHY; RETINA PIGMENT EPITHELIOPATHY; SUBRETINAL NEOVASCULARIZATION;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHLORIDE CHANNELS; ELECTROOCULOGRAPHY; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; HUMANS; MALE; REFRACTION, OCULAR; SIBLINGS; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VITELLIFORM MACULAR DYSTROPHY; YOUNG ADULT;

EID: 80051558833     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2011.197     Document Type: Article

References (5)

1. 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. (Pubitemid 351726077)
2. Gerth C, Zawadzki RJ, Werner JS, Héon E. Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB). Doc Ophthalmol. 2009;118(3):239-246.
3. 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(5):581-592.
4. Schatz P, Klar J, Andréasson S, Ponjavic V, Dahl N. Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. Ophthalmic Genet. 2006;27(2):51-56. (Pubitemid 43879985)
5. Lotery AJ, Munier FL, Fishman GA, et al. Allelic variation in the VMD2 gene in best disease and age-relatedmacular degeneration. Invest Ophthalmol Vis Sci. 2000;41(6):1291-1296. (Pubitemid 30261849)