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Congenital Cataract (congenital + cataract)
Selected AbstractsCongenital Cataract and Heart Septal Defects: Are Contiguous or Reciprocally Influenced Genes Involved?CONGENITAL HEART DISEASE, Issue 3 2009Sebastiano Bianca MD No abstract is available for this article. [source] Congenital cataract , Results of treatmentACTA OPHTHALMOLOGICA, Issue 6 2002Kristina Tornqvist No abstract is available for this article. [source] 2243: Update on inherited ocular developmental diseaseACTA OPHTHALMOLOGICA, Issue 2010GCM BLACK Purpose To provide an overview of progress in understanding of the genetics of developmental ocular disease. Methods A systematic review, including case presentations, to illustrate insights into genes underlying developmental ocular disorders: Results Studies suggest that, in developed countries, between a third and a half of the diagnoses underlying childhood blind or partial-sighted registration are genetic while a number of other ,non-genetic' conditions also have a substantial genetic contribution. Such a figure is likely to be an underestimate. Although most of these conditions are rare, many of the issues regarding diagnosis and counselling apply to the group as a whole and it is therefore possible to consider a common approach to many aspects of their clinical management. An important challenge, for example, is to improve genetic counselling for patients affected by, and at risk of, disorders that may be caused by a genetic change in one of many possible genes, which typifies many inherited conditions associated with blindness (developmental ocular disorders, early-onset retinal dystrophies, congenital cataract). Most diagnostic genetic testing currently being undertaken focuses on single genes; this will be illustrated for ocular conditions such as retinoblastoma, Norrie disease and microphthalmia. However future prospects will focus upon use of new higher throughput technologies (e.g Microarray technologies). Conclusion The recent identification of genes underlying, for example, anophthalmia/microphthalmia spectrum (e.g. VSX2, SOX2, BCOR), anterior segment dysgenesis (e.g. PITX2, FOXC1, FOXE3) and early,onset retinal disorders (e.g. ADVIRC, RPE65) has shed light on the pathways and processes underlying a range of the biological processes underlying ocular development. [source] Glaucoma in aphakic and pseudophakic eyes following surgery for congenital cataract in the first year of lifeACTA OPHTHALMOLOGICA, Issue 1 2010Caitriona Kirwan Abstract. Purpose:, To determine the incidence and risk factors for glaucoma in pseudophakic and aphakic eyes following surgery for congenital cataract within the first year of life. Methods:, We conducted a review of all cataract surgery performed at our unit over a 23-year period. Age at surgery, corneal diameter, intraocular lens implantation, presence of persistent foetal vasculature and visual axis opacification (VAO) were documented. Time to development of glaucoma, management and outcome were determined. One eye was selected randomly for analysis in cases of bilateral cataract. Results:, Duration of follow-up was significantly longer (p < 0.001) in the aphakic (113 ± 69 months) compared to the pseudophakic group (56 ± 44 months). Age at surgery was significantly less (p = 0.01) in the aphakic group. The incidence of glaucoma was significantly greater (p = 0.02) in the aphakic (15 eyes, 33%) compared to the pseudophakic (seven eyes, 13%) group. Each eye that developed glaucoma underwent cataract extraction aged , 2.5 months. Analysis of all eyes that underwent surgery aged , 2.5 months revealed no statistical difference (p = 0.08) in the incidence of glaucoma. Smaller corneal diameter and VAO were not associated with increased risk of glaucoma development. Ahmed valves proved effective in controlling intraocular pressure but visual outcome was poor in the majority of cases. Conclusion:, Surgery for congenital cataract at an early age increases the risk of glaucoma development, regardless of whether the eye is aphakic or pseudophakic. Intraocular pressure control with Ahmed valves is frequently required. Glaucomatous damage and dense amblyopia contribute to poor visual outcome in these eyes. [source] Light scattering in the C57BL/6 mouse lensACTA OPHTHALMOLOGICA, Issue 2 2007Linda M. Meyer Abstract. Purpose:, To characterize inherent light scattering in the C57BL/6 mouse lens. Methods:, Lenses from 20 6-week-old female C57BL/6 mice were extracted from freshly enucleated globes and microsurgically cleaned of remnants of the ciliary body. Lens light scattering was measured quantitatively with a light dissemination meter (LDM). Morphological properties of the mouse lenses were documented using grid- and dark-field illumination photography. Analysis of variance was performed to establish variance for animals, variance between left and right eyes and variance for measurements. Results:, Average inherent light scattering in the C57BL/6 mouse lens is 0.16 ± 0.02 tEDC (transformed equivalent diazepam concentration). The mean size of a mouse lens at 6 weeks is 1.9 mm in diameter. Two lenses featured pre-existing cortical lens opacities. Variance for animals was assessed to be 7.9 10, 4 tEDC2, variance for measurements was 1.6 10, 4 tEDC2, and variance between left and right eyes was 8.8 10, 4 tEDC2. The tolerance limit for non-pathological light scattering was determined to 0.26 tEDC. No significant difference in light scattering between left and right mouse lenses was found. The minimum number of C57BL/6 mice required for detection of a 10% experimentally induced change in light scattering intensity was estimated to be 50 for independent group experiments and 25 for paired design experiments. Conclusions:, The C57BL/6 mouse is a suitable animal in which to conduct experiments on light scattering or cataractogenesis with high precision at reasonable sample sizes. Before including C57BL/6 mice into a study on cataractogenesis, pre-existing lens opacities such as congenital cataract must be excluded. [source] Outcome after treatment of congenital bilateral cataractACTA OPHTHALMOLOGICA, Issue 6 2002Anna Lundvall ABSTRACT. Purpose:, To evaluate long-term functional outcome after treatment of dense congenital bilateral cataract. Methods:, The records of 22 consecutive children operated on before the age of 12 months at St. Erik's Eye Hospital over a 5-year period (1991,96) were reviewed retrospectively. Linear Snellen visual acuity (VA) at last check, presence of stereoacuity, nystagmus, strabismus and other complications are accounted for. Subject age at last check ranged from 4 to 9 years. Results:, Visual acuity could be estimated in 19 children: the median VA of the better eye was 0.4 (range: counting fingers , 0.8) and of the fellow eye 0.15 (range: amaurosis , 0.8). In nine otherwise healthy children who were operated on early (by 1 month of age), VA varied from 0.4 to 0.8 in the better eye. Four of these children achieved stereopsis. Pupillary block glaucoma developed in five eyes (in three children). Chronic glaucoma developed in eight eyes (in five children). Glaucoma occurred predominantly in children who underwent cataract extraction during the first week of life. Two of the latter had marked microphthalmos. Conclusion:, Good postoperative VA was achieved in most healthy children with dense bilateral congenital cataract when surgery was performed early (before 6,8 weeks of age). Chronic glaucoma developed predominantly when cataract extraction was performed during the first week of life. [source] Ocular complications at the limits of viabilityACTA PAEDIATRICA, Issue 3 2007Ferdinand Pulzer Abstract Aim: To evaluate the incidence of retinopathy of prematurity (ROP) and other ocular morbidities in extremely premature infants. Methods: A retrospective analysis of the prevalence and nature of ocular abnormalities in a cohort of 22 extremely pre-term infants born <25 + 0 weeks of estimated gestational age (GA) was performed. Results: The children were grouped according to the observed disorder: 13 out of 22 (59%) neonates with mild ophthalmologic findings (ROP , stage II) [Group 1], 5 out of 22 (23%) infants with ROP stage III or more (Group 2) and 4 out of 22 (18%) neonates with severe ocular morbidity (congenital cataract, microphthalmia, partial optic nerve atrophy and corneal perforation due to an ulcer with lens protrusion), partly combined with ROP , stage III (three of four). One child of 22 (5%) needed laser therapy. Out of 22 admitted infants, 20 (91%) were discharged alive. Conclusion: The high rate of ocular morbidity besides ROP in extremely pre-term infants is noteworthy. Mechanisms influencing the postnatal development of the eye, especially their relation to the grade of prematurity and neonatological therapeutical strategies, require further investigations. [source] | ||||||||||