introduction;
ophthalmic genetics;
special issue;
EYE;
D O I:
10.1002/ajmg.c.31841
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
In this special issue of theAmerican Journal of Medical Genetics, Part C, we explore the ever-expanding field of Ophthalmic Genetics. The eye is unique among organs for its accessibility to physical examination, permitting exploration of every tissue by slit lamp microscopy, ophthalmoscopy, and imaging including color and autofluorescent photography, ultrasound, optical coherence tomography (OCT), electrophysiology, and adaptive optics confocal and scanning laser ophthalmoscopy. This accessibility permits a variety of surgical and nonsurgical treatments, including the first FDA-approved gene therapy, voretigene neparvovec-rzyl forRPE65-associated Leber Congenital Amaurosis. In this issue, we sought to provide a survey highlighting how heritable ophthalmic disorders are recognizable and accessible to clinical geneticists as well as ophthalmologists.
机构:
Univ Barcelona, Gran Via Corts Catalanes 585, E-08007 Barcelona, Spain
Comp Vis Ctr, Gran Via Corts Catalanes 585, Barcelona 08007, SpainUniv Barcelona, Gran Via Corts Catalanes 585, E-08007 Barcelona, Spain
Dimiccoli, Mariella
Gurrin, Cathal
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h-index: 0
机构:
Dublin City Univ, Sch Comp, Dublin 9, IrelandUniv Barcelona, Gran Via Corts Catalanes 585, E-08007 Barcelona, Spain
Gurrin, Cathal
Crandall, David
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h-index: 0
机构:
Indiana Univ, Sch Informat & Comp, 611 N Pk Ave, Bloomington, IN 47405 USAUniv Barcelona, Gran Via Corts Catalanes 585, E-08007 Barcelona, Spain
Crandall, David
Giro-i-Nieto, Xavier
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h-index: 0
机构:
Tech Univ Catalonia, Jordi Girona 1-3,Edifici D5,Campus Nord UPC, Barcelona 08034, SpainUniv Barcelona, Gran Via Corts Catalanes 585, E-08007 Barcelona, Spain
Giro-i-Nieto, Xavier
Radeva, Petia
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h-index: 0
机构:
Univ Barcelona, Gran Via Corts Catalanes 585, E-08007 Barcelona, Spain
Comp Vis Ctr, Gran Via Corts Catalanes 585, Barcelona 08007, SpainUniv Barcelona, Gran Via Corts Catalanes 585, E-08007 Barcelona, Spain
机构:
Indiana Univ, Sch Optometry, 800 E Atwater, Bloomington, IN 47405 USAIndiana Univ, Sch Optometry, 800 E Atwater, Bloomington, IN 47405 USA
Burns, Stephen A.
Werner, John S.
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h-index: 0
机构:
Univ Calif Davis, Dept Opthalmol, 4860 Y St,Ste 2400, Sacramento, CA 95817 USAIndiana Univ, Sch Optometry, 800 E Atwater, Bloomington, IN 47405 USA