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Blindness Worldwide (blindness + worldwide)
Selected AbstractsMyocilin allele-specific glaucoma phenotype database,HUMAN MUTATION, Issue 2 2008Alex W. Hewitt Abstract Glaucoma, a complex heterogenous disease, is the leading cause for optic nerve,related blindness worldwide. Since 1997, when mutations in the myocilin (MYOC) gene were identified as causing juvenile onset as well as a proportion of primary open-angle glaucoma (POAG), more than 180 variants have been documented. Approximately one in 30 unselected patients with POAG have a disease-causing myocilin mutation and it has been shown that firm genotype,phenotype correlations exist. We have compiled an online catalog of myocilin variants and their associated phenotypes. This locus-specific resource, to which future submissions can be made, is available online (www.myocilin.com; last accessed 28 August 2007). The database, constructed using MySQL, contains three related sheets that contain data pertaining to the information source, variant identified, and relevant study data, respectively. The website contains a list of all identified variants and summary statistics as well as background genomic information, such as the annotated sequence and cross-protein/species homology. Phenotypic data such as the meanąstandard deviation (SD) age at POAG diagnosis, meanąSD maximum recorded intraocular pressure, proportion of patients requiring surgical intervention, and age-related penetrance can be viewed by selecting a particular mutation. Approximately 40% of the identified sequence variants have been characterized as disease causing, with the majority (,85%) of these being missense mutations. Preliminary data generated from this online resource highlight the strong genotype,phenotype correlations associated with specific myocilin mutations. The large-scale assimilation of relevant data allows for accurate comprehensive genetic counseling and the translation of genomic information into the clinic. Hum Mutat 29(2), 207,211, 2008. Š 2007 Wiley-Liss, Inc. [source] Early cortical lens opacities: a short overviewACTA OPHTHALMOLOGICA, Issue 6 2009Gijs F.J.M. Vrensen Abstract. Cataract is still the dominant cause of blindness worldwide. Cortical cataract is the most prevalent of the age-related changes in the human lenses that require surgical intervention to restore vision. The absence of adequate cataract surgery in most developing countries is the main cause of the high prevalence of cataract blindness worldwide. Lens ageing is accompanied by dramatic increases in stiffness, light scattering and coloration of the lens nucleus. These changes start to become manifest as early as the fourth or fifth decade of life and lead to nuclear cataract in old age. In the same period the equatorial deep lens cortex starts to show small opaque shades, which eventually grow out to segmental and annular opacities. These opaque shades are filled with small vesicles and contain abnormal amounts of cross-linked proteins, cholesterol and phospholipids. They are bordered by membranes that are rich in square arrays, have ,degenerate' gap junctions and have few intramembranous particles. It has been shown that the opaque shades represent cohorts of locally affected fibres segregated from unaffected neighbouring fibres by ,non-leaky' membranes. This segregation is an effective mechanism delaying the outgrowth of these opacities to cuneiform cataracts entering the pupillary space and thus leading to blinding cortical cataracts. Although cataract formation is mostly considered to be a multi-factorial disease, oxidative stress might be one of the leading causes for both nuclear and cortical cataract. In cortical cataracts shear stress between cortex and nucleus during accommodation may also play a significant role. [source] Eye injuries in rural Victoria, AustraliaCLINICAL & EXPERIMENTAL OPHTHALMOLOGY, Issue 7 2009Simon Raymond MPH Abstract Background:, Eye injury causes significant morbidity and is a leading cause of blindness worldwide. This study investigates the incidence, spectrum and patterns of eye injury presenting to a rural hospital in Victoria, Australia. Methods:, A retrospective review of the medical records of all patients presenting with eye injury to the emergency department of Mildura Base Hospital, Victoria, Australia in year 2004 was conducted. As the emergency department of Mildura Base Hospital also acts as the outpatient department for this hospital, the series included all patients treated for eye injury at Mildura Base Hospital in year 2004, including admissions. Results:, There were 435 patients present to Mildura Base Hospital emergency department for eye injury in 2004, which represented approximately 1% of the population of Mildura. The majority of eye injuries were superficial. Fifty-six (13%) patients required specialist attention. Most patients were male (83%) and were middle-aged. The most common locations where eye injuries took place were residential homes (47%) and workplaces (32%). The most common causes of eye injuries were trade tools and machinery (47%), followed by chemicals (12%) and branches/sticks/twigs (11%). Of particular concern for Mildura is that approximately one-quarter of the patients treated at Mildura Base Hospital for eye injury in 2004 had been treated at Mildura Base Hospital for a separate episode of eye injury in the past. Conclusion:, Eye injuries represent a significant socioeconomic burden. This research contributes to the knowledge required for the design and implementation of effective preventative strategy. [source] | ||||||||||