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

Arlene V Drack; Scott R Lambert; Edwin M Stone

doi:10.1016/j.ajo.2009.08.038

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

Journal article

Open access

Peer reviewed

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

Arlene V Drack, Scott R Lambert and Edwin M Stone

American journal of ophthalmology, Vol.149(1), pp.10-17.e2

01/2010

DOI: 10.1016/j.ajo.2009.08.038

PMCID: PMC2813223

PMID: 20103038

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https://www.ncbi.nlm.nih.gov/pmc/articles/2813223View

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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. Entry into the genetic testing system often is via the patient's ophthalmologist. Collaboration with geneticists and genetic counselors, use of web sites to keep up with the ever-changing availability and detection rates, and knowledge of clinical trials, when combined with excellent clinical diagnosis, can improve diagnosis and allow eligible patients to participate in treatment trials.

Ophthalmology

Genetic Predisposition to Disease

Molecular Diagnostic Techniques

Humans

Child, Preschool

Eye Diseases, Hereditary - diagnosis

Infant

Genetic Testing - methods

Infant, Newborn

Eye Diseases, Hereditary - genetics

Details

Title: Subtitle: From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology
Creators: Arlene V Drack - Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA. arlene-drack@uiowa.edu
Scott R Lambert
Edwin M Stone
Resource Type: Journal article
Publication Details: American journal of ophthalmology, Vol.149(1), pp.10-17.e2
DOI: 10.1016/j.ajo.2009.08.038
PMID: 20103038
PMCID: PMC2813223
NLM abbreviation: Am J Ophthalmol
ISSN: 0002-9394
eISSN: 1879-1891
Publisher: United States
Grant note: R01 EY016822-05 / NEI NIH HHS R01 EY016822 / NEI NIH HHS R01 EY011543-05 / NEI NIH HHS Howard Hughes Medical Institute R01 EY010539-05 / NEI NIH HHS
Language: English
Date published: 01/2010
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983980398402771

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