124 research outputs found
Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease
No full textInherited retinal dystrophies (IRDs) are a common cause of blindness or severe visual impairment in children and may occur with or without systemic associations. The aim of the present study is to describe the phenotypic and genotypic spectrum of IRDs in a pediatric patient cohort in Retrospective single-center cross-sectional analysis. Presenting symptoms, clinical phenotype, and molecular genetic diagnosis were assessed in 309 pediatric patients with suspected IRD. Patients were grouped by age at genetic diagnosis (preschool: 0–6 years, n = 127; schoolchildren: 7–17 years, n = 182). Preschool children most frequently presented with nystagmus (34.5% isolated, 16.4% syndromic), no visual interest (20.9%; 14.5%), or nyctalopia (22.4%; 3.6%; p < 0.05); schoolchildren most frequently presented with declining visual acuity (31% isolated, 21.1% syndromic), nyctalopia (10.6%; 13.5%), or high myopia (5.3%; 13.2%). Pathogenic variants were identified in 96 different genes (n = 69 preschool, n = 73 schoolchildren). In the preschool group, 57.4% had isolated and 42.6% had syndromic IRDs, compared to 70.9% and 29.1% in schoolchildren. In the preschool group, 32.4% of the isolated IRDs were related to forms of Leber’s congenital amaurosis (most frequent were RPE65 (11%) and CEP290 (8.2%)), 31.5% were related to stationary IRDs, 15.1% were related to macular dystrophies (ABCA4, BEST1, PRPH2, PROM1), and 8.2% to rod–cone dystrophies (RPGR, RPB3, RP2, PDE6A). All rod–cone dystrophies (RCDs) were subjectively asymptomatic at the time of genetic diagnosis. At schoolage, 41% were attributed to cone-dominated disease (34% ABCA4), 10.3% to BEST1, and 10.3% to RCDs (RP2, PRPF3, RPGR; IMPG2, PDE6B, CNGA1, MFRP, RP1). Ciliopathies were the most common syndromic IRDs (preschool 37%; schoolchildren 45.1%), with variants in USH2A, CEP290 (5.6% each), CDH23, BBS1, and BBS10 (3.7% each) being the most frequent in preschoolers, and USH2A (11.7%), BBS10 (7.8%), CEP290, CDHR23, CLRN1, and ICQB1 (3.9% each) being the most frequent in syndromic schoolkids. Vitreoretinal syndromic IRDs accounted for 29.6% (preschool: COL2A1, COL11A1, NDP (5.6% each)) and 23.5% (schoolage: COL2A1, KIF11 (9.8% each)), metabolic IRDs for 9.4% (OAT, HADHA, MMACHD, PMM2) and 3.9% (OAT, HADHA), mitochondriopathies for 3.7% and 7.8%, and syndromic albinism accounted for 5.6% and 3.9%, respectively. In conclusion we show here that the genotypic spectrum of IRDs and its quantitative distribution not only differs between children and adults but also between children of different age groups, with an almost equal proportion of syndromic and non-syndromic IRDs in early childhood. Ophthalmic screening visits at the preschool and school ages may aid even presymptomatic diagnosis and treatment of potential sight and life-threatening systemic sequelae
Prophylactic anticoagulation with enoxaparin: Is the subcutaneous route appropriate in the critically ill?
No full textProgression of lamellar hole-associated epiretinal proliferation and retinal changes during long-term follow-up
No full textPurpose: To report on progression of lamellar hole-associated epiretinal proliferation (LHEP) in eyes with lamellar macular holes (LMH) using spectral-domain optical coherence tomography (SD-OCT), and to correlate with intraretinal changes and visual function.Methods: From a retrospectively reviewed series of 167 eyes with non-full-thickness macular holes, we exclusively included a subgroup of 34 eyes with LMH and LHEP by SD-OCT evaluation. In these eyes, area of LHEP, intraretinal changes of defect diameter, central retinal thickness, defects of the ellipsoid zone and occurrence of a contractive epiretinal membrane were analysed. Additionally, clinical data were documented.Results: Area of LHEP significantly increased during a mean follow-up period of 40.5 months (median 52 months). Analysing intraretinal changes, a significant enlargement of minimum and maximum horizontal lamellar hole diameter was found that correlated with the area of LHEP. Defects of the ellipsoid zone were seen in 65% of the eyes at baseline and in 85% at the end of follow-up. Increase of maximum horizontal hole diameter and ellipsoid zone defects correlated with a decline of visual acuity. Fifty per cent of patients with LMH and LHEP also demonstrated extrafoveal typical contractive epiretinal membranes with retinal folds.Conclusions: Long-term follow-up revealed an increase of the area of LHEP in eyes with LMH that correlated with the enlargement of lamellar hole diameter and ellipsoid zone defects. Our data delineate the progression of intraretinal changes in association with a decline of visual function in this subgroup of LMH eyes
Multicenter Study of Descemet Membrane Endothelial Keratoplasty First Case Series of 18 Surgeons
No full textMonnereau, C., Quilendrino, R., Dapena, I., Liarakos, V.S., Alfonso, J.F., Arnalich-Montiel, F., Böhnke, M., Pereira, N.C., Dirisamer, M., Parker, J., Droutsas, K., Geerling, G., Gerten, G., Hashemi, H., Kobayashi, A., Naveiras, M., Oganesyan, O., Domingo, E.O., Priglinger, S., Stodulka, P., Silva, J.T., Jr., Venzano, D., Vetter, J.M., Yiu, E., Melles, G.R.J
The relationship between blue-fundus autofluorescence and optical coherence tomography in eyes with lamellar macular holes
No full textPURPOSE. The purpose of this study was to evaluate the relationship between blue-fundus autofluorescence (B-FAF) and optical coherence tomography (OCT) in eyes with lamellar macular holes (LMHs). METHODS. this was a multicenter, observational case series. Ninety-two eyes with LMH associated with the standard epiretinal membrane (ERM) or lamellar hole–associated epiretinal proliferation (LHEP) were evaluated. The eyes must also present an area of increased autofluorescence on B-FAF. RESULTS. The ERM-alone group and the LHEP group differed with respect to the following variables: logarithm of the minimum angle of resolution best-corrected visual acuity (0.13 ± 0.13 vs. 0.25 ± 0.17; P <0.001), central foveal thickness (218.74 ± 52.4 lm vs. 187.28 ± 50.29 lm; P = 0.008), FAF diameter (400.78 ± 189.36 lm vs. 503.37 ± 214.25 lm; P = 0.014), outer plexiform layer (OPL) diameter (382.10 ± 157.34 lm vs. 550.79 ± 228.05 lm; P = 0.0001), and disruption of external limiting membrane and ellipsoid zone, which was noted in only 1 and 3 eyes with ERM alone, respectively, and in 18 and 23 eyes with LHEP, respectively (P <0.0001 for both observations). No difference was found for diameters measured at the level of the inner limiting membrane and schisis/cavitation. In both the ERM-alone group and the LHEP group, a strong correlation was found between the diameters measured on B-FAF and diameters measured at the OPL level on OCT images (P <0.0001 for both groups). CONCLUSIONS. In eyes with LMHs, a strong correlation exists between the diameters of the holes measured with B-FAF and those measured at the OPL level with OCT. This may indicate that the loss or displacement of retinal cells containing macular pigment at the OPL level, specifically photoreceptors and/or Müller cells, is involved in this vitreomaculopathy
Anatomic Success of Scleral Buckling for Rhegmatogenous Retinal Detachment - A Retrospective Study of 524 Cases
No full textBackground/Aim: Our purpose was to investigate the anatomic success of scleral buckling surgery for rhegmatogenous retinal detachment. Material and Methods: A total of 524 consecutive patients were retrospectively analysed. Several parameters including the lens status, number of breaks and extent of retinal detachment, preoperative proliferative vitreoretinopathy and refractive errors were examined. The minimum follow-up was 6 months. The primary success rate was defined as anatomic success being stable over a period of at least 6 months after surgery. The secondary success rate was defined as anatomic success after the second intervention if necessary. Besides an analysis over all patients, the patients were grouped according to the severity of the preoperative situation in simple, medium and severe cases. Results: The overall primary anatomic success rate was 84.7% and the secondary success rate 96.4% after 1 initial scleral buckling surgery and 1 additional surgery in case of persisting retinal detachment, and 19.1% of the patients with an initially attached retina after 1 scleral buckling surgery experienced a redetachment in the postoperative course and were successfully treated in 60/85 cases. In phakic patients (n = 359) the primary success rate was 89.7%, whereas in pseudophakic patients (n = 165) a primary success rate of 73.9% was obtained. The primary success was additionally influenced by the extent of the retinal detachment measured in clock hours (p <0.001), undetected holes (p = 0.004), small (p = 0.037) and no gas tamponade (p = 0.021). In simple, medium and severe cases, phakic patients always achieved better anatomic results (89.9, 89.1 and 90.2%) compared to pseudophakic ones (82.5, 70.3 and 36.4%). Conclusion: Scleral buckling is a very good surgical option in phakic patients irrespective of the preoperative severity and simple cases in pseudophakic patients. Scleral buckling represents a surgical technique worth being trained and performed in the light of favourable results especially in phakic eyes. Copyright (C) 2010 S. Karger AG, Base
Laser treatment in diabetic retinopathy
No full textDiabetic retinopathy is a leading cause of visual impairment and blindness in developed countries due to macular edema and proliferative diabetic retinopathy (PDR). For both complications laser treatment may offer proven therapy: the Diabetic Retinopathy Study demonstrated that panretinal scatter photocoagulation reduces the risk of severe visual loss by >= 50% in eyes with high-risk characteristics. Pan-retinal scatter coagulation may also be beneficial in other PDR and severe nonproliferative diabetic retinopathy (NPDR) under certain conditions. For clinically significant macular edema the Early Treatment of Diabetic Retinopathy Study could show that immediate focal laser photocoagulation reduces the risk of moderate visual loss by at least 50%. When and how to perform laser treatment is described in detail, offering a proven treatment for many problems associated with diabetic retinopathy based on a high evidence level. Copyright (c) 2007 S. Karger AG, Basel
Age effect on retina and optic disc normal values
No full textPurpose:
To investigate retinal thickness and optic disc parameters by the Retinal Thickness Analyzer (RTA) glaucoma program in older normal subjects and to determine any age effect.
Methods:
Subjects over 40 years of age without any prior history of eye diseases were recruited. Only subjects completely normal on clinical ophthalmologic examination and on visual field testing by Humphrey Field Analyzer (HFA) using the SITA 24-2 program were included. A total of 74 eyes from 74 subjects with even age distribution over the decades were enrolled and underwent topographic measurements of the posterior pole and of the optic disc by RTA. The `glaucoma full' program in software version 4.11B was applied.
Results:
Mean patient age was 59.9 +/- 10.3 years with a range from 40 to 80 years. The only parameter intraocular pressure (IOP) correlated with was retinal posterior pole asymmetry (r=0.27, p=0.02). IOP itself increased significantly with age (r=0.341, p=0.003). Mean defect and pattern standard deviation of the HFA did not correlate with any of the retinal or optic disc measurements. Increasing age correlated significantly with some of the morphologic measurements of the RTA: decreasing perifoveal minimum thickness (r=-0.258, p=0.026), increased cup-to-disc area ratio (r=0.302, p=0.016) and increased cup area (r=0.338 p=0.007).
Conclusions:
An age effect exists for some of the retina and optic disc measurements obtained by the RTA. Copyright (C) 2005 S. Karger AG, Basel
Optical coherence tomography fast versus regular macular thickness mapping in diabetic retinopathy
No full textObjective: The purpose of the study was to investigate if absolute values and reproducibility of thickness maps obtained from 2 optical coherence tomography (OCT) scanning protocols, regular high-resolution and fast low-density mode, differ in patients with diabetic macular edema. Methods: A total of 26 consecutive patients undergoing fluorescein angiography and Stratus OCT scanning for the evaluation of diabetic macular edema at the Departments of Ophthalmology in Munich and Vienna were included. Results: Retinal thickness of the central field of the thickness map measured by fast retinal thickness protocol was 287 +/- 97 and 290 +/- 113 mu m by the regular protocol. This difference as well as that for all other fields was not statistically significant. Three times repeated measurements applying both OCT scanning modes in 10 patients yielded very good intrasession correlation coefficients between 0.70 and 0.99, with corresponding intrasession standard deviations ranging between 6 and 16 mu m. The fast mode yielded slightly less reproducible values than the regular mode. Visual acuity did not influence the results. Conclusion: In practice both scanning modes caninterchanged and absolute values can be compared directly. Best reproducibility is obtained with higher sampling density even in patients with reduced visual acuity due to diabetic macular edema. Copyright (C) 2008 S. Karger AG, Basel
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