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Clinical and Genetic Misdiagnosis of Autosomal Recessive Bestrophinopathy

Clinical and Genetic Misdiagnosis of Autosomal Recessive Bestrophinopathy Letters 5. Cobb B, Shilling JS, Chisholm IH. Vascular tufts at the pupillary margin in Author Affiliations: Sydney Eye Hospital, Sydney, New South Wales, Australia myotonic dystrophy. Am J Ophthalmol. 1970;69(4):573-582. (Fung); Save Sight Institute, University of Sydney, New South Wales, Australia (Fung); Rotterdam Eye Hospital, Rotterdam, the Netherlands (Yzer); 6. Bakke EF, Drolsum L. Iris microhaemangiomas and idiopathic juxtafoveolar Department of Ophthalmology, Columbia University, New York, New York retinal telangiectasis. Acta Ophthalmol Scand. 2006;84(6):818-822. (Allikmets); Department of Pathology and Cell Biology, Columbia University, New York, New York (Allikmets). Corresponding Author: Rando Allikmets, Edward S. Harkness Eye Institute, Re- search Annex, 635 W 165th St, Box 28, New York, NY 10032 (rla22@columbia.edu). COMMENT & RESPONSE Conflict of Interest Disclosures: None reported. 1. Silva RA, Berrocal AM, Lam BL, Albini TA. Novel mutation in BEST1 associated Clinical and Genetic Misdiagnosis of Autosomal with retinoschisis. JAMA Ophthalmol. 2013;131(6):794-798. Recessive Bestrophinopathy 2. Boon CJ, van den Born LI, Visser L, et al. Autosomal recessive To the Editor We read with great interest and surprise the re- bestrophinopathy: differential diagnosis and treatment options. cent case report by Silva et al describing 2 siblings who pre- Ophthalmology. 2013;120(4):809-820. sented with bilateral macular retinoschisis and http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Ophthalmology American Medical Association

Clinical and Genetic Misdiagnosis of Autosomal Recessive Bestrophinopathy

Fung, Adrian; Yzer, Suzanne; Allikmets, Rando
JAMA Ophthalmology , Volume 131 (12) – Dec 1, 2013
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Clinical and Genetic Misdiagnosis of Autosomal Recessive Bestrophinopathy

Abstract

Letters 5. Cobb B, Shilling JS, Chisholm IH. Vascular tufts at the pupillary margin in Author Affiliations: Sydney Eye Hospital, Sydney, New South Wales, Australia myotonic dystrophy. Am J Ophthalmol. 1970;69(4):573-582. (Fung); Save Sight Institute, University of Sydney, New South Wales, Australia (Fung); Rotterdam Eye Hospital, Rotterdam, the Netherlands (Yzer); 6. Bakke EF, Drolsum L. Iris microhaemangiomas and idiopathic juxtafoveolar Department of Ophthalmology, Columbia University, New...
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Publisher
American Medical Association
Copyright
Copyright 2013 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
2168-6165
eISSN
2168-6173
DOI
10.1001/jamaophthalmol.2013.5363
pmid
24337562
Publisher site
See Article on Publisher Site

Abstract

Letters 5. Cobb B, Shilling JS, Chisholm IH. Vascular tufts at the pupillary margin in Author Affiliations: Sydney Eye Hospital, Sydney, New South Wales, Australia myotonic dystrophy. Am J Ophthalmol. 1970;69(4):573-582. (Fung); Save Sight Institute, University of Sydney, New South Wales, Australia (Fung); Rotterdam Eye Hospital, Rotterdam, the Netherlands (Yzer); 6. Bakke EF, Drolsum L. Iris microhaemangiomas and idiopathic juxtafoveolar Department of Ophthalmology, Columbia University, New York, New York retinal telangiectasis. Acta Ophthalmol Scand. 2006;84(6):818-822. (Allikmets); Department of Pathology and Cell Biology, Columbia University, New York, New York (Allikmets). Corresponding Author: Rando Allikmets, Edward S. Harkness Eye Institute, Re- search Annex, 635 W 165th St, Box 28, New York, NY 10032 (rla22@columbia.edu). COMMENT & RESPONSE Conflict of Interest Disclosures: None reported. 1. Silva RA, Berrocal AM, Lam BL, Albini TA. Novel mutation in BEST1 associated Clinical and Genetic Misdiagnosis of Autosomal with retinoschisis. JAMA Ophthalmol. 2013;131(6):794-798. Recessive Bestrophinopathy 2. Boon CJ, van den Born LI, Visser L, et al. Autosomal recessive To the Editor We read with great interest and surprise the re- bestrophinopathy: differential diagnosis and treatment options. cent case report by Silva et al describing 2 siblings who pre- Ophthalmology. 2013;120(4):809-820. sented with bilateral macular retinoschisis and

Journal

JAMA Ophthalmology – American Medical Association

Published: Dec 1, 2013

References

  • Novel mutation in BEST1 associated with retinoschisis.
    Silva, RA; Berrocal, AM; Lam, BL; Albini, TA
  • Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
    Boon, CJ; van den Born, LI; Visser, L
  • Childhood-onset autosomal recessive bestrophinopathy.
    Borman, AD; Davidson, AE; O’Sullivan, J
  • Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.
    Kinnick, TR; Mullins, RF; Dev, S

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