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 Colorado, Dept Sociol, Boulder, CO 80309 USA
Univ Colorado, Inst Behav Sci, Boulder, CO 80309 USAUniv Colorado, Dept Sociol, Boulder, CO 80309 USA
Boardman, Jason D.
Fletcher, Jason M.
论文数: 0引用数: 0
h-index: 0
机构:
Yale Univ, Dept Epidemiol & Publ Hlth, Div Hlth Policy & Adm, New Haven, CT 06520 USAUniv Colorado, Dept Sociol, Boulder, CO 80309 USA
机构:
Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH 45267 USA
Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USAUniv Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH 45267 USA
Prada, Carlos E.
Cavalcanti, Denise
论文数: 0引用数: 0
h-index: 0
机构:
State Univ Campinas UNICAMP, Fac Med Sci, Med Genet Dept, Campinas, SP, BrazilUniv Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH 45267 USA
Cavalcanti, Denise
Schwartz, Ida Vanessa Doederlein
论文数: 0引用数: 0
h-index: 0
机构:
Univ Fed Rio Grande do Sul, Dept Genet, Porto Alegre, RS, Brazil
Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilUniv Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH 45267 USA
Schwartz, Ida Vanessa Doederlein
Zarate, Yuri A.
论文数: 0引用数: 0
h-index: 0
机构:
Hosp Clin Porto Alegre, Clin Res Ctr, Porto Alegre, RS, BrazilUniv Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH 45267 USA
机构:
Univ N Carolina, Sch Med, Dept Psychiat, Chapel Hill, NC 27599 USA
Univ N Carolina, Eshelman Sch Pharm, Div Pharmacotherapy & Expt Therapeut, Chapel Hill, NC 27599 USAUniv N Carolina, Sch Med, Dept Psychiat, Chapel Hill, NC 27599 USA
Tarantino, Lisa M.
Schalkwyk, Leonard C.
论文数: 0引用数: 0
h-index: 0
机构:
Kings Coll London, Inst Psychiat, MRC, Social Genet & Dev Psychiat SGDP Ctr, London SE5 8AF, EnglandUniv N Carolina, Sch Med, Dept Psychiat, Chapel Hill, NC 27599 USA