New cataract gene discoveredFebruary 15, 2008The international team of researchers was able to identify the location and defect in the coding region of the gene through analysis of genetic material (DNA) from members of a large Swiss family, the majority of whom suffered from autosomal dominant juvenile cataract. The corresponding protein belongs to a family of monocarboxylate transporters which move small molecules across cell mem-branes. Surprisingly, this genetic defect may also lead to the condition of renal glucosuria, a non-pathological kidney defect with elevated levels of glucose in the urine, but not in blood. New research underway The search for the molecule that is carried by this new transporter across the membrane has now begun. The researchers suspect that this genetic defect interferes with homeostasis in the lens as well as in the kidney. Since the known environmental risk factors for age-related cataract point to physiological and oxidative damages accumulating over time within the lens, the researchers assume that defects in this newly discovered transporter may also be a cause of age-related cataract. Age-related cataract patients are now being screened to find mutations in this gene. Understanding the exact function of this transporter may open new venues for non-surgical treatment of cataract. Gradual blurred vision Cataract, the condition of altered refractive index in the lens of the eye, is the clouding of the eye's normally clear lens and results in blurry vision that frequently includes disturbing glare in the visual field. Successful treatment today involves surgical removal of the affected lens and replacement with an artificial one. Two conditions of cataract Age onset of cataract is the distinguishing characteristic between affliction in childhood or in later years. Whereas about 14% of blind children are affected, half of the adult population worldwide aged 60 and older suffers from age-related cataract. Various underlying defects cause its development. Research in molecular and genetic science has enabled identification of several genes that play an important role in structural or regulatory functions in lens cells. Although all cataract genes identified to date are known to affect children, genetic factors for age-related cataract continue to remain widely undiscovered. ETH Zurich/Swiss Federal Institute of Technology |
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| Related Cataract Current Events and Cataract News Articles Cataract surgery does not appear associated with worsening of age-related macular degeneration Age-related macular degeneration does not appear to progress at a higher rate among individuals who have had surgery to treat cataract, contrary to previous reports that treating one cause of vision loss worsens the other. Cataract surgery helps AMD patients; steroid improves DME; online eye health forum This month's Ophthalmology, the journal of the American Academy of Ophthalmology (Academy) reports on a national study that finds cataract surgery is likely to benefit patients with age-related macular degeneration (AMD) at all stages of the disease, on a clinical trial showing that the steroid triamcinolone may be effective in advanced diabetic macular edema (DME) patients when standard treatment fails, and on the public's use of two Academy-sponsored online eye health forums. Study predicts 40 percent increase in blindness in Nigeria by 2020 By 2020, 1.4 million Nigerians over age 40 will lose their sight, and the vast majority of the causes are either preventable or treatable, according to the Nigeria National Blindness and Visual Impairment Study Group. Market based reforms have not harmed equity in the NHS, say researchers Recent NHS reforms, such as the introduction of patient choice and provider competition, have not had a deleterious impact on equity with respect to waiting times for elective surgery in England. Gene mutation responsible for premature skin aging disease identified In the new print issue of Nature Genetics, scientists in Singapore and Germany report that mutations in the PYCR1 gene cause the rare genetic condition that results in premature skin aging and that is known as "wrinkly skin syndrome." Drug for urination difficulties linked with complications after cataract surgery Use of the medication tamsulosin to treat male urination difficulties within two weeks of cataract surgery is associated with an increased risk of serious postoperative ophthalmic adverse events such as retinal detachment or lost lens. Vigorous Exercise May Help Prevent Vision Loss There's another reason to dust off those running shoes. Vigorous exercise may help prevent vision loss, according to a pair of studies from the U.S. Department of Energy's Lawrence Berkeley National Laboratory. Melatonin may save eyesight in inflammatory disease Current research suggests that melatonin therapy may help treat uveitis, a common inflammatory eye disease. The related report by Sande et al., "Therapeutic Effect of Melatonin in Experimental Uveitis," appears in the December issue of The American Journal of Pathology. Vision loss more common in people with diabetes Visual impairment appears to be more common in people with diabetes than in those without the disease, according to a report in the October issue of Archives of Ophthalmology, one of the JAMA/Archives journals. Corneal transplant technique shows promise in children For infants and children with blinding diseases of the cornea, a sophisticated new corneal transplantation technique offers the hope of improving vision while overcoming the technical difficulty and low success rate of traditional penetrating keratoplasty (PK) in children, according to reports in the current issue of the Journal of AAPOS (American Association for Pediatric Ophthalmology and Strabismus). More Cataract Current Events and Cataract News Articles |
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