Clinical and Genetic Misdiagnosis of Autosomal Recessive Bestrophinopathy

被引：5

作者：

Fung, Adrian ^{[1
,2
]}

Yzer, Suzanne ^{[3
]}

Allikmets, Rando ^{[4
,5
]}

机构：

[1] Sydney Eye Hosp, Sydney, NSW, Australia

[2] Univ Sydney, Save Sight Inst, Sydney, NSW 2006, Australia

[3] Rotterdam Eye Hosp, Rotterdam, Netherlands

[4] Columbia Univ, Dept Ophthalmol, New York, NY 10027 USA

[5] Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA

来源：

JAMA OPHTHALMOLOGY | 2013年 / 131卷 / 12期

关键词：

D O I：

10.1001/jamaophthalmol.2013.5363

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

引用

页码：1651 / 1651

页数：1

共 4 条

[1] Autosomal Recessive Bestrophinopathy Differential Diagnosis and Treatment Options [J].

Boon, Camiel J. F. ;

van den Born, L. Ingeborgh ;

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Keunen, Jan E. E. ;

Bergen, Arthur A. B. ;

Booij, Judith C. ;

Riemslag, Frans C. ;

Florijn, Ralph J. ;

van Schooneveld, Mary J. .

OPHTHALMOLOGY, 2013, 120 (04) :809-820

[2] Childhood-Onset Autosomal Recessive Bestrophinopathy [J].

Borman, Arundhati Dev ;

Davidson, Alice E. ;

O'Sullivan, James ;

Thompson, Dorothy A. ;

Robson, Anthony G. ;

De Baere, Elfride ;

Black, Graeme C. M. ;

Webster, Andrew R. ;

Holder, Graham E. ;

Leroy, Bart P. ;

Manson, Forbes D. C. ;

Moore, Anthony T. .

ARCHIVES OF OPHTHALMOLOGY, 2011, 129 (08) :1088-1093

[3] AUTOSOMAL RECESSIVE VITELLIFORM MACULAR DYSTROPHY IN A LARGE COHORT OF VITELLIFORM MACULAR DYSTROPHY PATIENTS [J].

Kinnick, Tyson R. ;

Mullins, Robert F. ;

Dev, Sundeep ;

Leys, Monique ;

Mackey, David A. ;

Kay, Christine N. ;

Lam, Byron L. ;

Fishman, Gerald A. ;

Traboulsi, Elias ;

Iezzi, Raymond ;

Stone, Edwin M. .

RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2011, 31 (03) :581-595

[4] Novel Mutation in BEST1 Associated With Retinoschisis [J].

Silva, Ruwan A. ;

Berrocal, Audina M. ;

Lam, Byron L. ;

Albini, Thomas A. .

JAMA OPHTHALMOLOGY, 2013, 131 (06) :794-798

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