In this special issue of the American 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 for RPE65‐associated Leber Congenital Amaurosis. In this issue, we sought to provide a survey highlighting how her...
The past decade has seen major advances in gene-based therapies, many of which show promise for tran...
Ophthalmology has been an early adopter of personalized medicine. Drawing on genomic advances to imp...
Rapid advances in genomic sequencing have revolutionised genetic diagnostics and research over the l...
Current genetic screening methods for inherited eye diseases are concentrated on the coding exons of...
Past 25y have witnessed an exponential increase in knowledge and understanding of ocular diseases an...
Purpose: To inform ophthalmologists of the extraordinary progress in molecular genetics that is revo...
Genetic eye diseases affect around one in 1000 people worldwide for which the molecular aetiology re...
Abstract Inherited eye diseases are a group of conditions with genetic and phenotypi...
Overall, approximately one-quarter of patients with genetic eye diseases will receive a molecular di...
Genetic diseases are congenital or acquired hereditary diseases that result from structural/function...
The eye has played a major role in human genomics including gene therapy. It is the fourth most comm...
The eye has played a major role in human genomics including gene therapy. It is the fourth most comm...
The human retina is the tissue at the back of the eye responsible for converting light stimulus into...
Many eye diseases have a genetic basis, and most can be caused by mutations in many different genes ...
Genetic diseases are congenital or acquired hereditary diseases that result from structural/function...
The past decade has seen major advances in gene-based therapies, many of which show promise for tran...
Ophthalmology has been an early adopter of personalized medicine. Drawing on genomic advances to imp...
Rapid advances in genomic sequencing have revolutionised genetic diagnostics and research over the l...
Current genetic screening methods for inherited eye diseases are concentrated on the coding exons of...
Past 25y have witnessed an exponential increase in knowledge and understanding of ocular diseases an...
Purpose: To inform ophthalmologists of the extraordinary progress in molecular genetics that is revo...
Genetic eye diseases affect around one in 1000 people worldwide for which the molecular aetiology re...
Abstract Inherited eye diseases are a group of conditions with genetic and phenotypi...
Overall, approximately one-quarter of patients with genetic eye diseases will receive a molecular di...
Genetic diseases are congenital or acquired hereditary diseases that result from structural/function...
The eye has played a major role in human genomics including gene therapy. It is the fourth most comm...
The eye has played a major role in human genomics including gene therapy. It is the fourth most comm...
The human retina is the tissue at the back of the eye responsible for converting light stimulus into...
Many eye diseases have a genetic basis, and most can be caused by mutations in many different genes ...
Genetic diseases are congenital or acquired hereditary diseases that result from structural/function...
The past decade has seen major advances in gene-based therapies, many of which show promise for tran...
Ophthalmology has been an early adopter of personalized medicine. Drawing on genomic advances to imp...
Rapid advances in genomic sequencing have revolutionised genetic diagnostics and research over the l...