Abstract
introduction Recent advances in molecular biology techniques and imaging instruments have opened up the possibility that genetic-based screening and imaging might become faster, less expensive, and more available.1 One condition where these new technologies could have an application is juvenile-onset open-angle glaucoma (JOAG). Current practices for detecting cases of juvenileonset glaucoma involve measurements of intraocular pressure (IOP) and optic nerve assessment by cup-to-disc ratio (CDR). These practices are far from perfect, and results vary from one ophthalmologist to the next. Furthermore, because the levels of IOP and the CDR at which pathology is likely to be seen have not been well defined there is a degree of uncertainty in determining whether or not a diagnosis of glaucoma can be made.2 There are problems in the guidelines for current screening for JOAG and the solution to these problems could lie in new technologies such as genetic screening and imaging that could potentially complement each other in helping to better screen for this disorder in the future.
Highlights
Recent advances in molecular biology techniques and imaging instruments have opened up the possibility that genetic-based screening and imaging might become faster, less expensive, and more available.[1]
Glaucoma is a disease of the eye characterized by increased intraocular pressure (IOP) and progressive degeneration of the optic nerve leading to permanent visual loss
juvenile-onset open-angle glaucoma (JOAG) is inherited as an autosomal dominant trait and could be detected early in development using imaging of the retina and optic disc at high resolution
Summary
Recent advances in molecular biology techniques and imaging instruments have opened up the possibility that genetic-based screening and imaging might become faster, less expensive, and more available.[1]. Glaucoma is a disease of the eye characterized by increased IOP and progressive degeneration of the optic nerve leading to permanent visual loss.
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