Developments in genetics and technology are bringing with them incredible possibilities in the management and potential cure of patients with retinal dystrophy. In this editorial, we address the issue of genetic testing in retinal dystrophies. In the first section, we provide some background information about genetic testing. In the second section, we discuss how genetic testing can be helpful to patients and families with retinal dystrophy. In the third section, we introduce some important considerations that one must be aware of while contemplating genetic testing
Nonsyndromic recessive retinal dystrophies cause severe visual impairment due to the death of photor...
We studied the scientific literature and disease guidelines in order to summarize the clinical utili...
Next-generation sequencing (NGS) has overcome important limitations to the molecular diagnosis; of I...
The capability of genetic technologies is expanding rapidly in the field of inherited eye disease. N...
Over the past decade, novel high-throughput DNA sequencing technologies have revolutionised both res...
Retinal dystrophies (RD) are a group of inherited ocular disorders of the retina causing blindness i...
The capability of genetic technologies is expanding rapidly in the field of inherited eye disease. N...
The identification of the genes underlying monogenic diseases has been of interest to clinicians and...
Retinal dystrophies are genetically heterogeneous, resulting from mutations in over 200 genes. Prior...
Inherited retinal dystrophies cause progressive vision loss and are major contributors to blindness ...
Retinal dystrophies are genetically heterogeneous, resulting from mutations in over 200 genes. Prior...
Hereditary retinal dystrophies (HRDs) are degenerative diseases of the retina which have marked clin...
To assess the clinical utility of targeted Next-Generation Sequencing (NGS) for the diagnosis of Inh...
AimTo test the utility of targeted sequencing as a method of clinical molecular testing in patients ...
Inherited retinal degenerations (IRDs) are a genotypically and phenotypically diverse group of condi...
Nonsyndromic recessive retinal dystrophies cause severe visual impairment due to the death of photor...
We studied the scientific literature and disease guidelines in order to summarize the clinical utili...
Next-generation sequencing (NGS) has overcome important limitations to the molecular diagnosis; of I...
The capability of genetic technologies is expanding rapidly in the field of inherited eye disease. N...
Over the past decade, novel high-throughput DNA sequencing technologies have revolutionised both res...
Retinal dystrophies (RD) are a group of inherited ocular disorders of the retina causing blindness i...
The capability of genetic technologies is expanding rapidly in the field of inherited eye disease. N...
The identification of the genes underlying monogenic diseases has been of interest to clinicians and...
Retinal dystrophies are genetically heterogeneous, resulting from mutations in over 200 genes. Prior...
Inherited retinal dystrophies cause progressive vision loss and are major contributors to blindness ...
Retinal dystrophies are genetically heterogeneous, resulting from mutations in over 200 genes. Prior...
Hereditary retinal dystrophies (HRDs) are degenerative diseases of the retina which have marked clin...
To assess the clinical utility of targeted Next-Generation Sequencing (NGS) for the diagnosis of Inh...
AimTo test the utility of targeted sequencing as a method of clinical molecular testing in patients ...
Inherited retinal degenerations (IRDs) are a genotypically and phenotypically diverse group of condi...
Nonsyndromic recessive retinal dystrophies cause severe visual impairment due to the death of photor...
We studied the scientific literature and disease guidelines in order to summarize the clinical utili...
Next-generation sequencing (NGS) has overcome important limitations to the molecular diagnosis; of I...