Eyeworld

EW INTERNATIONAL 104 October 2015 according to a report in the journal Ophthalmology by Rachel L. Gillespie, PhD, Graeme C. Black, DPhil, FRCOphth, and colleagues. That said, autosomal recessive inheritance is increasingly being uncovered, they reported. This is especially true in groups where there is preva- lence of parental consanguinity. In addition, while it has been estab- lished that about 50% of congenital cataract cases are genetic in origin, the insufficiency of current diag- nosis and management continues to challenge clinicians because the exact cause in the majority of cases remains undetermined, they noted. "There are many diseases that involve congenital cataracts, but finding the exact reason was always difficult," said Dr. Black, professor of genetics and ophthalmology, University of Manchester, and strategic director, Manchester Centre for Genomic Medicine, in an inter- view with the American Academy of Ophthalmology. "Even with a family history, diagnosing these rare diseases was always a bit of a shot in the dark." As reported in Ophthalmolo- gy, findings by the University of Manchester research group demon- strated that next-generation DNA sequencing technologies are capable of pinpointing the exact genetic cause of congenital cataracts in 75% of the patient population tested. In patients with nonsyndromic congenital cataracts, 85% were found to have likely pathogenic mutations, while in patients with I n today's clinical practice, if you're looking for an exact genetic cause of congenital cataract, you generally have to screen each genetic mutation separately and consecutively. Except in the U.K., for exam- ple, where significant inroads—in research and clinically—have been made toward improving both the personal diagnosis of these patients and speed in which that is done. Congenital cataract is a condi- tion that can manifest as a symptom of more than 100 rare diseases. Add on the fact that mutations in more than 115 genes are being linked to congenital cataracts, and looking for that root cause really is like look- ing for a needle in the proverbial haystack. This time-consuming and costly process can even yield results that are inconclusive. Thanks to a new development in genomic medicine, clinicians may now be able to approach the diagno- sis and management of congenital cataracts in a "personalized"—and streamlined—manner. Using next-generation DNA se- quencing, a research team from the Centre for Genomic Medicine at the University of Manchester, U.K., has developed a test capable of check- ing all genes that are understood to cause congenital cataracts while only using one blood sample. The potential of next-generation DNA sequencing Congenital cataract often is inherit- ed as an autosomal dominant trait, by Matt Young and Gloria D. Gamat EyeWorld Contributing Writers New DNA sequencing very personally diagnoses congenital cataracts A NEW ERA IN STERILE CORNEA ALLOGRAFTS EASY-PEEL PACKAGING Patented easy-peel packaging allows for quick introduction of sterile tissues to the surgical field, saving valuable OR time. 99.9% CLARITY Unlike traditional patches, Halo corneas are clear and will remain clear, resulting in simplified post-op assessment and improved patient cosmesis. STABLE STORAGE Halo tissues can remain at room temperature and never need reconstitution, so you'll always be ready for emergencies as well as scheduled procedures. Developed at Lions VisionGift's renowned Vision Research Laboratory, Halo sterile tissues provide surgeons with distinct procedural and cosmetic benefits. © Copyright 2015 Lions VisionGift and Stephens Instruments ( 800 ) 354-7848 stephensinst.com halo@stephensinst.com Distributed exclusively through or visit halograft.org For more information see us at AAO booth #1655

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