From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology.

American Journal of Ophthalmology
Arlene V DrackEdwin M Stone

Abstract

To review the current state of molecular genetic testing as it relates to pediatric ophthalmology and to discuss its uses. Review and evaluation of available molecular genetic testing. Literature review and discussion of testing in practice based on the authors' clinical and laboratory experience. Fee-for-service testing for many genetic eye diseases now is available. A report is always generated for fee-for-service testing. Detection of DNA variants in genes known to cause eye disease must be interpreted taking into account the variability of the human genome, the presence of benign variants (polymorphisms), and the carrier frequency of recessive alleles. Negative results in genetic testing are helpful in some disorders for which most of the causative genes are known and many disease-causing variants have already been reported, but are less helpful in those that currently have many undiscovered causative genes or novel mutations. Research-based testing also is available, but does not always yield a result. Patients with RPE65-associated Leber congenital amaurosis may be eligible for the current gene therapy trial. Patients with a variety of disorders may benefit from improved surveillance if their genetic diagnosis is known. E...Continue Reading

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Citations

Feb 22, 2012·Current Oncology Reports·Sidnei Epelman
May 17, 2011·Middle East African Journal of Ophthalmology·Luis A R Gabriel, Elias I Traboulsi
Jul 25, 2015·Advances in Pediatrics·Alina V Dumitrescu, Arlene V Drack
Oct 20, 2018·Ophthalmic Genetics·Virginia Miraldi UtzElias I Traboulsi
Feb 12, 2019·Canadian Review of Sociology = Revue Canadienne De Sociologie·Christopher Greco
Oct 4, 2017·Indian Journal of Pediatrics·Ishwar Chander VermaKanika Singh

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