Volume 7, Number 10
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Monday, March 12, 2007
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Molecular Testing
for Hereditary Retinal Disease as Part of Clinical Care Molecular testing can confirm a clinical diagnosis,
identify carrier status and confirm or rule out the presence of a familial
mutation in nonsymptomatic at-risk relatives. Because causative mutations
cannot be identified in all patients with retinal diseases, say the
authors of this University of Michigan study, it is essential that patients
are counseled before testing regarding the benefits and limitations
of this emerging diagnostic tool.
Researchers conducted mutation analysis of eight retinal genes by dideoxy sequencing and offered pre-test and post-test genetic counseling to patients. The laboratory reports listed results and provided individualized interpretation. A total of 350 tests were performed; the molecular basis of disease was determined in 133 of 266 diagnostic tests and the disease-causing mutations were not identified in the remaining 133 diagnostic tests. Predictive tests were requested for nine non-symptomatic patients with known familial mutations, and carrier tests were requested for 75 non-symptomatic patients with known familial mutations. The authors stress that the molecular definition of the genetic basis of disease provides a unique adjunct to the clinical care of patients with hereditary retinal degenerations. |
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SOURCE: Downs K, Zacks DN, Caruso R, et al. Molecular testing for hereditary retinal disease as part of clinical care. Arch Ophthalmol 2007;125(2):252-8. |
Outcome of Phacoemulsification
in Patients with Uveitis In this retrospective review, investigators at Moorfields Eye Hospital, United Kingdom, examined the visual outcome and identified risk factors for developing postoperative uveitis, macular edema and Nd:YAG capsulotomy after phacoemulsification (PE) and intraocular lens (IOL) implantation in patients with uveitis. The study included reviews of the medical records of 101 eyes of 101 patients. One eye was randomly selected for inclusion in patients who had bilateral surgery. Patients with juvenile arthritis, kerato-uveitis and lymphoma-associated uveitis were excluded. At the postoperative and final visits, visual acuity was significantly better. At postop, 64.4 percent of patients achieved two or more lines of visual improvement; at final visits, 71.3 percent of patients achieved two or more lines of visual improvement. Doubling of the visual angle occurred in 52 percent of patients over six years of follow-up and at a higher rate in the presence of preoperative retinal or optic nerve lesions. Within three months postoperatively, uveitis was more likely in female patients and in the presence of significant intra-operative posterior synechiae; and macular edema was more likely in patients who developed postoperative uveitis. Nd:YAG capsulotomy occurred at a higher rate in patients aged 55 years or younger and in those with hydrogel IOLs, and at a lower rate in patients who had prophylactic systemic corticosteroids, with plate-haptic silicone IOLs and three-piece silicone IOLs in comparison with PMMA IOLs. The results of the review suggest that the majority of patients with uveitis achieve improvement of their visual acuity after phacoemulsification, but that an increasing rate of doubling of the visual angle occurs in patients with pre-existing macular or optic nerve lesions. The authors believe that the use of prophylactic steroids, careful IOL selection and postoperative intensive steroids in patients at risk should help reduce postoperative complications and plan their follow-up. |
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SOURCE: Elgohary MA, McCluskey PJ, Towler HM, et al. Outcome of phacoemulsification in patients with uveitis. Br J Ophthalmol 2007; Jan 3 [Epub ahead of print]. |
Association of
Retinal Vessel Caliber to Optic Disc and Cup Diameters Scientists at the University of Wisconsin conducted a study using the population of the Beaver Dam Study to investigate whether optic disc size is related to retinal venule and arteriole diameters. Residents of Beaver Dam, Wisconsin aged 43 to 86 years were invited to participate in a baseline examination from 1988 to 1990. During the examination, photographs centered on the optic discs were taken after pupil dilation. Investigators measured optic discs and cups from stereoscopic photographs and took retinal vessel measurements from a single digitized photograph. Central retinal vein and central retinal arterial equivalents were subsequently calculated. The analysis included data for 3,887 right eyes. Results showed narrower retinal venules and arterioles in the smaller optic discs, controlling for optic cup diameter, age, systolic and diastolic blood pressure, refraction and gender. Central retinal artery equivalents ranged from 156.04 +/- 16.82 microns in the smallest optic disc category to 165.93 +/- 15.17 microns in the larger disc category. Central retinal vein equivalents ranged from 228.93 +/- 21.26 microns in the smallest to 243.18 +/- 22.32 microns in the larger disc categories. The significant reduction in retinal vessel diameters was apparent only for the smallest optic disc sizes. A reduction in retinal vessel diameters was less consistent and not significant for small optic cup sizes. The researchers concluded that smallest optic discs were associated with smaller central retinal artery and central retinal vein diameters. They believe that this anatomic relationship may be useful as an additional associated indicator for nonarteritic anterior ischemic optic neuropathy and for retinal vascular events. |
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SOURCE: Lee KE, Klein BE, Klein R, Meuer SM. Association of retinal vessel caliber to optic disc and cup diameters. Invest Ophthalmol Vis Sci 2007;48(1):63-7. |
BRIEFLY
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