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:
CSIR, Inst Genom & Integrat Biol IGIB, New Delhi, India
Acad Sci & Innovat Res AcSIR, Delhi, India
Fortis Mem Res Inst, Dept Ophthalmol, Sect 44, Gurugram, IndiaCSIR, Inst Genom & Integrat Biol IGIB, New Delhi, India
Bansal, Mayank
Tandon, Radhika
论文数: 0引用数: 0
h-index: 0
机构:
All India Inst Med Sci AIIMS, Dr Rajendra Prasad Ctr Ophthalm Sci, New Delhi, IndiaCSIR, Inst Genom & Integrat Biol IGIB, New Delhi, India
Tandon, Radhika
Saxena, Rohit
论文数: 0引用数: 0
h-index: 0
机构:
All India Inst Med Sci AIIMS, Dr Rajendra Prasad Ctr Ophthalm Sci, New Delhi, IndiaCSIR, Inst Genom & Integrat Biol IGIB, New Delhi, India
Saxena, Rohit
Sharma, Arundhati
论文数: 0引用数: 0
h-index: 0
机构:
All India Inst Med Sci AIIMS, Dept Anat, New Delhi, IndiaCSIR, Inst Genom & Integrat Biol IGIB, New Delhi, India
Sharma, Arundhati
Sen, Sagnik
论文数: 0引用数: 0
h-index: 0
机构:
All India Inst Med Sci AIIMS, Dr Rajendra Prasad Ctr Ophthalm Sci, New Delhi, IndiaCSIR, Inst Genom & Integrat Biol IGIB, New Delhi, India
Sen, Sagnik
Kishore, Alisha
论文数: 0引用数: 0
h-index: 0
机构:
All India Inst Med Sci AIIMS, Dr Rajendra Prasad Ctr Ophthalm Sci, New Delhi, IndiaCSIR, Inst Genom & Integrat Biol IGIB, New Delhi, India
Kishore, Alisha
Venkatesh, Pradeep
论文数: 0引用数: 0
h-index: 0
机构:
All India Inst Med Sci AIIMS, Dr Rajendra Prasad Ctr Ophthalm Sci, New Delhi, IndiaCSIR, Inst Genom & Integrat Biol IGIB, New Delhi, India
Venkatesh, Pradeep
Maiti, Souvik
论文数: 0引用数: 0
h-index: 0
机构:
CSIR, Inst Genom & Integrat Biol IGIB, New Delhi, India
Acad Sci & Innovat Res AcSIR, Delhi, IndiaCSIR, Inst Genom & Integrat Biol IGIB, New Delhi, India
Maiti, Souvik
Chakraborty, Debojyoti
论文数: 0引用数: 0
h-index: 0
机构:
CSIR, Inst Genom & Integrat Biol IGIB, New Delhi, India
Acad Sci & Innovat Res AcSIR, Delhi, IndiaCSIR, Inst Genom & Integrat Biol IGIB, New Delhi, India
机构:
BSCS Sci Learning, 5415 Mark Dabling Blvd, Colorado Springs, CO 80918 USABSCS Sci Learning, 5415 Mark Dabling Blvd, Colorado Springs, CO 80918 USA
Donovan, Brian
Nehm, Ross H.
论文数: 0引用数: 0
h-index: 0
机构:
SUNY Stony Brook, Dept Ecol & Evolut, Program Sci Educ, Life Sci Bldg 650, Stony Brook, NY 11794 USABSCS Sci Learning, 5415 Mark Dabling Blvd, Colorado Springs, CO 80918 USA
机构:
Univ Calif San Francisco, Ernest Gallo Clin & Res Ctr, San Francisco, CA 94143 USAUniv Calif San Francisco, Ernest Gallo Clin & Res Ctr, San Francisco, CA 94143 USA
Kliethermes, Christopher L.
Kamens, Helen M.
论文数: 0引用数: 0
h-index: 0
机构:
Yale Univ, Sch Med, Dept Psychiat, New Haven, CT 06520 USAUniv Calif San Francisco, Ernest Gallo Clin & Res Ctr, San Francisco, CA 94143 USA