Welcome!

News Feed Item

DNA Test for Congenital Cataracts Leads to Faster, More Accurate Diagnoses of Rare Diseases Linked to Childhood Blindness

Study shows targeted next-generation gene sequencing can identify cause of inheritable syndromes, allowing earlier treatment and genetic counseling

SAN FRANCISCO, Aug. 21, 2014 /PRNewswire-USNewswire/ -- Researchers in the United Kingdom have demonstrated that advanced DNA testing for congenital cataracts can quickly and accurately diagnose a number of rare diseases marked by childhood blindness, according to a study published online today in Ophthalmology, the journal of the American Academy of Ophthalmology. Using a single test, doctors were able to tailor care specifically to a child's condition based on their mutations, reducing the time and money spent on diagnosis and enabling earlier treatment and genetic counseling.

American Academy of Ophthalmology Logo.

Each year, between 20,000 and 40,000 children worldwide are born with congenital cataracts, a disease that clouds the lens of the eye and often requires surgery and treatment to prevent blindness.[1] The disease can arise following a maternal infection or be inherited as an isolated abnormality. Congenital cataracts can also appear as a symptom of more than 100 rare diseases, making mutations in the 115 genes associated with congenital cataracts useful as diagnostic markers for the illnesses.

Diagnosing these rare diseases previously proved a lengthy, costly and inconclusive process involving numerous clinical assessments and taking a detailed family history. DNA testing, one gene at a time, would have taken years to complete. Employing new DNA sequencing technology, called targeted next-generation sequencing, researchers at the University of Manchester sped up diagnosis to a matter of weeks by testing for mutations in all 115 known congenital cataracts genes at one time.

In 75 percent of the 36 cases tested, the DNA test determined the exact genetic cause of congenital cataracts. In one case, the DNA test helped diagnose a patient with Warburg Micro syndrome, an extremely rare disease that is marked by an abnormally small head and the development of severe epilepsy, among other medical issues. Having a clear diagnosis allowed for genetic counseling and appropriate care to be delivered quicker than previously possible without the test.  

"There are many diseases that involve congenital cataracts but finding the exact reason was always difficult," said Graeme Black, DPhil., professor of genetics and ophthalmology at the University of Manchester and strategic director of the Manchester Centre for Genomic Medicine. "Even with a family history, diagnosing these rare diseases was always a bit of a shot in the dark."

In the course of their work, done in collaboration with Manchester Royal Eye Hospital, researchers also found previously undescribed mutations linked to cataract formation. "There is hope that our work may one day provide more insight into the development and treatment of age-related cataracts, a leading cause of blindness worldwide," said Rachel Gillespie, MSc, lead author of the study who designed and developed the test.

The test was made available to U.K. patients through the country's National Health Service in December 2013. Infants and children who have congenital cataracts can be tested as well as prospective parents with a history of the condition who wish to evaluate the risk to their child. Results generally take about two months. While only available in the U.K., the congenital cataract DNA test can be requested by registered medical facilities through international referral.

As with all genetic testing, the American Academy of Ophthalmology encourages clinicians and patients to consider the benefits as well as the risks. Ophthalmologists who order genetic tests either should provide genetic counseling to their patients themselves, if qualified to do so, or should ensure that counseling is provided by a trained individual, such as a board-certified medical geneticist or genetic counselor. For more information, please see the Academy's recommendations on genetic testing for inherited eye diseases.

Notable studies published in the August 2014 print issue of Ophthalmology include:

Detection of Early Glaucoma via Macular Ganglion Cell Analysis
Can macular ganglion cell analysis (GCA) maps developed with Cirrus high-definition optical coherence tomography be used to detect early glaucoma? Hwang et al. investigated this question and found that while GCA maps were able to detect early glaucoma, this ability was affected by the angular distance between the fovea and retinal nerve fiber layer defect.

Systemic Medication and Intraocular Pressure in a British Population: the EPIC-Norfolk Eye Study 
This is the first population-based study to demonstrate and quantify clinically significant differences in intraocular pressure (IOP) among participants using systemic beta blockers or nitrates. Lower IOP observed in participants using statins or aspirin was explained by concurrent systemic beta blocker use.

About the American Academy of Ophthalmology
The American Academy of Ophthalmology, headquartered in San Francisco, is the world's largest association of eye physicians and surgeons, serving more than 32,000 members worldwide.  The Academy's mission is to advance the lifelong learning and professional interests of ophthalmologists to ensure that the public can obtain the best possible eye care. For more information, visit www.aao.org.

The Academy is also a leading provider of eye care information to the public. The Academy's EyeSmart® program educates the public about the importance of eye health and empowers them to preserve healthy vision. EyeSmart provides the most trusted and medically accurate information about eye diseases, conditions and injuries. OjosSanos™ is the Spanish-language version of the program. Visit www.geteyesmart.org or www.ojossanos.org to learn more.

About Ophthalmology
Ophthalmology, the official journal of the American Academy of Ophthalmology, publishes original, peer-reviewed, clinically-applicable research. Topics include the results of clinical trials, new diagnostic and surgical techniques, treatment methods, technology assessments, translational science reviews and editorials. For more information, visit www.aaojournal.org.

[1] Epidemiology of cataract in childhood: a global perspective, J Cataract Refract Surg. 1997;23 Suppl 1:601-4.

Logo - http://photos.prnewswire.com/prnh/20130405/MM89329LOGO

SOURCE American Academy of Ophthalmology

More Stories By PR Newswire

Copyright © 2007 PR Newswire. All rights reserved. Republication or redistribution of PRNewswire content is expressly prohibited without the prior written consent of PRNewswire. PRNewswire shall not be liable for any errors or delays in the content, or for any actions taken in reliance thereon.

Latest Stories
"We focus on SAP workloads because they are among the most powerful but somewhat challenging workloads out there to take into public cloud," explained Swen Conrad, CEO of Ocean9, Inc., in this SYS-CON.tv interview at 20th Cloud Expo, held June 6-8, 2017, at the Javits Center in New York City, NY.
"I think DevOps is now a rambunctious teenager – it’s starting to get a mind of its own, wanting to get its own things but it still needs some adult supervision," explained Thomas Hooker, VP of marketing at CollabNet, in this SYS-CON.tv interview at DevOps Summit at 20th Cloud Expo, held June 6-8, 2017, at the Javits Center in New York City, NY.
"We are still a relatively small software house and we are focusing on certain industries like FinTech, med tech, energy and utilities. We help our customers with their digital transformation," noted Piotr Stawinski, Founder and CEO of EARP Integration, in this SYS-CON.tv interview at 20th Cloud Expo, held June 6-8, 2017, at the Javits Center in New York City, NY.
"We've been engaging with a lot of customers including Panasonic, we've been involved with Cisco and now we're working with the U.S. government - the Department of Homeland Security," explained Peter Jung, Chief Product Officer at Pulzze Systems, in this SYS-CON.tv interview at @ThingsExpo, held June 6-8, 2017, at the Javits Center in New York City, NY.
"We're here to tell the world about our cloud-scale infrastructure that we have at Juniper combined with the world-class security that we put into the cloud," explained Lisa Guess, VP of Systems Engineering at Juniper Networks, in this SYS-CON.tv interview at 20th Cloud Expo, held June 6-8, 2017, at the Javits Center in New York City, NY.
"With Digital Experience Monitoring what used to be a simple visit to a web page has exploded into app on phones, data from social media feeds, competitive benchmarking - these are all components that are only available because of some type of digital asset," explained Leo Vasiliou, Director of Web Performance Engineering at Catchpoint Systems, in this SYS-CON.tv interview at DevOps Summit at 20th Cloud Expo, held June 6-8, 2017, at the Javits Center in New York City, NY.
Your homes and cars can be automated and self-serviced. Why can't your storage? From simply asking questions to analyze and troubleshoot your infrastructure, to provisioning storage with snapshots, recovery and replication, your wildest sci-fi dream has come true. In his session at @DevOpsSummit at 20th Cloud Expo, Dan Florea, Director of Product Management at Tintri, provided a ChatOps demo where you can talk to your storage and manage it from anywhere, through Slack and similar services with...
"Peak 10 is a hybrid infrastructure provider across the nation. We are in the thick of things when it comes to hybrid IT," explained Michael Fuhrman, Chief Technology Officer at Peak 10, in this SYS-CON.tv interview at 20th Cloud Expo, held June 6-8, 2017, at the Javits Center in New York City, NY.
As enterprise cloud becomes the norm, businesses and government programs must address compounded regulatory compliance related to data privacy and information protection. The most recent, Controlled Unclassified Information and the EU’s GDPR have board level implications and companies still struggle with demonstrating due diligence. Developers and DevOps leaders, as part of the pre-planning process and the associated supply chain, could benefit from updating their code libraries and design by in...
SYS-CON Events announced today that Calligo, an innovative cloud service provider offering mid-sized companies the highest levels of data privacy and security, has been named "Bronze Sponsor" of SYS-CON's 21st International Cloud Expo ®, which will take place on Oct 31 - Nov 2, 2017, at the Santa Clara Convention Center in Santa Clara, CA. Calligo offers unparalleled application performance guarantees, commercial flexibility and a personalised support service from its globally located cloud plat...
"We are an IT services solution provider and we sell software to support those solutions. Our focus and key areas are around security, enterprise monitoring, and continuous delivery optimization," noted John Balsavage, President of A&I Solutions, in this SYS-CON.tv interview at 20th Cloud Expo, held June 6-8, 2017, at the Javits Center in New York City, NY.
"We were founded in 2003 and the way we were founded was about good backup and good disaster recovery for our clients, and for the last 20 years we've been pretty consistent with that," noted Marc Malafronte, Territory Manager at StorageCraft, in this SYS-CON.tv interview at 20th Cloud Expo, held June 6-8, 2017, at the Javits Center in New York City, NY.
There is a huge demand for responsive, real-time mobile and web experiences, but current architectural patterns do not easily accommodate applications that respond to events in real time. Common solutions using message queues or HTTP long-polling quickly lead to resiliency, scalability and development velocity challenges. In his session at 21st Cloud Expo, Ryland Degnan, a Senior Software Engineer on the Netflix Edge Platform team, will discuss how by leveraging a reactive stream-based protocol,...
"We are focused on SAP running in the clouds, to make this super easy because we believe in the tremendous value of those powerful worlds - SAP and the cloud," explained Frank Stienhans, CTO of Ocean9, Inc., in this SYS-CON.tv interview at 20th Cloud Expo, held June 6-8, 2017, at the Javits Center in New York City, NY.
"DivvyCloud as a company set out to help customers automate solutions to the most common cloud problems," noted Jeremy Snyder, VP of Business Development at DivvyCloud, in this SYS-CON.tv interview at 20th Cloud Expo, held June 6-8, 2017, at the Javits Center in New York City, NY.