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Least One Eye (least + one_eye)
Selected AbstractsPrognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes,HUMAN MUTATION, Issue 5 2010Katherine V. Towns Abstract PRPF8 -retinitis pigmentosa is said to be severe but there has been no overview of phenotype across different mutations. We screened RP patients for PRPF8 mutations and identified three new missense mutations, including the first documented mutation outside exon 42 and the first de novo mutation. This brings the known RP-causing mutations in PRPF8 to nineteen. We then collated clinical data from new and published cases to determine an accurate prognosis for PRPF8 -RP. Clinical data for 75 PRPF8 -RP patients were compared, revealing that while the effect on peripheral retinal function is severe, patients generally retain good visual acuity in at least one eye until the fifth or sixth decade. We also noted that prognosis for PRPF8 -RP differs with different mutations, with p.H2309P or p.H2309R having a worse prognosis than p.R2310K. This correlates with the observed difference in growth defect severity in yeast lines carrying the equivalent mutations, though such correlation remains tentative given the limited number of mutations for which information is available. The yeast phenotype is caused by lack of mature spliceosomes in the nucleus, leading to reduced RNA splicing function. Correlation between yeast and human phenotypes suggests that splicing factor RP may also result from an underlying splicing deficit. © 2010 Wiley-Liss, Inc. [source] Prevalence of optic disc drusen in an adult Chinese population: the Beijing Eye StudyACTA OPHTHALMOLOGICA, Issue 2 2009Qi Sheng You Abstract. Purpose:, This study aimed to determine the prevalence of optic disc drusen and their associations with ocular and general parameters. Methods:, The Beijing Eye Study included 4439 of 5324 subjects invited to participate (response rate 83.4%). All subjects were aged , 40 years. The present investigation involved 8594 (96.8%) eyes of 4324 (97.4%) subjects from whom readable fundus photographs of at least one eye were available. The main outcome parameter was the presence of optic disc drusen defined as round, whitish bodies. Results:, Optic disc drusen were detected in nine (0.1 ± 0.05%) eyes of eight subjects (five women). The prevalence rate was 0.2 ± 0.07% (95% confidence interval 0.07,0.33%) per subject. Optic disc drusen were significantly associated with small optic discs (p < 0.001). They were not statistically associated with age (p = 0.90), gender (p = 0.73), intraocular pressure (p = 0.97), refractive error (p = 0.71), visual field defects (p = 0.47) or corrected visual acuity (p = 0.84). Conclusions:, Optic disc drusen are present in about two in 1000 adult Chinese people in Northern China. The main associated factor is a small optic disc. [source] Visual impairment is common in children born before 25 gestational weeks,boys are more vulnerable than girlsACTA PAEDIATRICA, Issue 2 2009Lena Jacobson Abstract Introduction: Children born extremely preterm have high risk of visual impairment due to retinopathy of prematurity (ROP) and cerebral lesions. Objective: The aim of this study was to investigate the frequency of ROP and visual impairment as defined by the World Health Organization (WHO), with respect to gender in two hospital-based groups of children born at the limit of viability. Patients and methods: A retrospective chart review was conducted for all children (n = 114), born before 25 gestational weeks and screened for ROP at Karolinska hospital in Stockholm and Sahlgrenska hospital in Gothenburg between 1990 and 2002. Maximal ROP stages, treatment for ROP and visual acuity (VA), with correction when needed at latest available visit, were recorded. Results: Altogether 97.4% had ROP, 74.6% developed proliferative disease (stage , 3) and 63.2% were treated with retinal ablation. Normal VA (,0.8) in at least one eye was found in 50.5% of all and in significantly more girls (61.5%) than boys (34.8%) (p = 0.006), while visual impairment (VA < 0.33) was more common in boys (32.6%) than in girls (9.2%) (p = 0.004). Conclusion: A large proportion of children, especially boys, born at the level of viability are visually impaired with low vision or blindness. Development of preventive measures is urgent. [source] Risk factors for primary open-angle glaucoma in a Burmese population: the Meiktila Eye StudyCLINICAL & EXPERIMENTAL OPHTHALMOLOGY, Issue 8 2007Robert J Casson FRANZCO Abstract Purpose:, To report the risk factors associated with primary open-angle glaucoma (POAG) in the Burmese population. Methods:, The Meiktila Eye study, a population-based cross-sectional study, included inhabitants 40 years of age and over from villages in the Meiktila District. Of 2481 eligible participants identified, 2076 participated in the study and sufficient examination data to diagnose glaucoma in at least one eye was obtained in 1997 participants. The ophthalmic examination included slit-lamp examination, tonometry, gonioscopy and dilated stereoscopic fundus examination. Definitions adhered to the International Society for Geographic and Epidemiological Ophthalmology's recommendations. Univariate and multivariate analyses of potential risk factors were performed. Results:, The overall prevalence of POAG was 2.0% (95% CI 0.9,3.1). In the univariate analysis, increasing age (P = 0.024), spherical equivalent (P = 0.01), axial length (P = 0.023) and intraocular pressure (IOP; P < 0.001) were significantly associated with POAG. And in the multivariate analysis, myopia <0.5 D (P = 0.049), increasing age and IOP (P < 0.001) were significant risk factors for POAG. Conclusion:, POAG in this Burmese population was associated with increasing age, axial myopia and IOP. [source] Patterns of glaucomatous visual field defects in an older population: the Blue Mountains Eye StudyCLINICAL & EXPERIMENTAL OPHTHALMOLOGY, Issue 4 2003Anne J Lee BSc(Med) MB BS Abstract This report aims to describe the frequency of different patterns of visual field loss in open-angle glaucoma (OAG). The Blue Mountains Eye Study examined 3654 persons (aged 49+) during 1992,1994. Humphrey supra-threshold visual fields were performed in 88.9%. Those classified as glaucoma suspects had 30,2 full-threshold fields (9.2%). Of OAG cases (n = 108) with field tests in both eyes (n = 97), unilateral defects were present in 49 (50.5%) and bilateral in 48 (49.5%). Advanced field loss was found in 16 (15.4%) subjects and in 22 (10.9%) eyes, with bilateral loss present in 6 (6.2%) cases. Of all eyes of OAG cases (n = 201), 49 (24.4%) had no defects, 52 (25.9%) upper, 61 (30.3%) lower, and 17 (8.5%) had combined upper and lower loss. Of the upper and lower cases (n = 113), the types of defects included nasal step (36), arcuate (26), nasal plus arcuate (26), and hemispherical defects (25). Of subjects with fields in at least one eye (n = 104), there was a similar proportion in the worse eye of upper defects (28.8%), lower (31.7%), and combined upper and lower (24.0%). Undiagnosed OAG was more frequent in unilateral (65.3%) than bilateral (34.7%) cases (P = 0.003). This study reports the pattern of typical glaucomatous field loss in an older Australian population. [source] | ||||||||||