Fedra Kort

Intravitreal bevacizumab for the treatment of choroidal neovascularization secondary to angioid streaks: one year of follow‐up

Purpose:  To evaluate the efficacy and safety of intravitreal bevacizumab at one year follow‐up, for the treatment of choroidal neovascularization (CNV) associated with angioid streaks.

Current and emerging treatment options for myopic choroidal neovascularization

Choroidal neovascularization (CNV) is the main cause of visual impairment in highly myopic patients younger than 50 years of age. There are different treatments for myopic CNV (mCNV), with 5- to 10-year outcomes currently. Chorioretinal atrophy is still the most important determinant factor for visual outcome. The purpose of this study is to provide an overview of the current treatments for mCNV, including laser, surgical management, verteporfin photodynamic therapy, and mainly anti-vascular endothelial growth factor therapy. Emerging treatment options are also discussed.

Bevacizumab Injection in Patients with Age-Related Macular Degeneration Associated with Poor Initial Visual Acuity

Purpose. To evaluate functional and anatomic effects of intravitreal bevacizumab in patients with neovascular AMD and initial low visual acuity. Methods. Retrospective case series of 38 eyes with neovascular AMD and initial visual acuity of 20/200 or less, treated with intravitreal bevacizumab injection. Results. Mean followup was 14.1 months ±  7.1 (range: 5 to 24 months). Mean logMAR vision at baseline was 1.38 logMAR ±  0.33, at 6 months was 1.14 logMAR ±  0.37 (P = 0.001) and at 12 months was 1.22 logMar ±  0.33 (P = 0.004). Mean baseline central retinal thickness was 431 μm ±  159.7 at 6 months was 293.43 μm  ±  122.79 (P = 10−4) and at 12 months was 293.1 μm  ±  130 (P = 0.004). Visual acuity improved in both patients with or without prior PDT treatment. Conclusions. Intravitreal bevacizumab injection may increase the chance of visual acuity gain in neovascular AMD even in cases with initial low visual acuity.

Characteristics of Astigmatism in a Population of Tunisian School-Children.

Purpose: To evaluate the characteristics of astigmatism in a cross-sectional study of schoolchildren in Tunisia. Materials and Methods: A random cluster design was used to recruit children from primary schools across urban and rural settings in Tunisia, from 2008 to 2010. A total of 6192 students aged 6-14-years old were enrolled. All students whose uncorrected visual acuity was worse than 20/20 underwent a complete ophthalmic examination. Astigmatism was defined as the cylinder power of 0.75 diopter (D) or greater. Results: The prevalence of astigmatism was 6.67%. Mean cylinder power was - 1.89 ± 0.79D. The prevalence of astigmatism increased statistically significantly with age (P = 0.032). The prevalence of astigmatism was not significantly related to gender (P = 0.051). Of those with cylinder, 63.6%, 17.8%, and 18.6% schoolchildren had with with-the-rule, against-the-rule, and oblique astigmatism, respectively. ATR astigmatism was significantly higher in males (P = 0.033). There was no significant association between the student′s area of residence and astigmatism (P = 0.059). Conclusion: Comparisons with other studies show that the prevalence of astigmatism in Tunisia is higher than in some countries. The prevalence of astigmatism increased with age but not gender. The majority of schoolchildren had with-the-rule astigmatism.

Complement Component C3 Variant (R102G) and the Risk of Neovascular Age-Related Macular Degeneration in a Tunisian Population

Purpose To explore the association between the polymorphism (S/F) p.R102G in the complement component 3 (C3) gene and age-related macular degeneration (AMD) in a Tunisian population. Methods The molecular study was performed by polymerase chain reaction using sequence-specific primers (PCR-SSP) in 207 control subjects free of any eye disease (fundus normal) and 145 patients with exudative AMD. The CH50 activity and quantification of C3 and C4 have been made by technical home method and nephelometry, respectively. Results The prevalence of C3 GG genotype polymorphism was significantly higher in AMD patients compared to controls (OR: 2.41, IC 95% [1.90-3.05], p = 0.0007). However, no correlation was found between this allelic variant and the type of neovascularization. Similarly, there is no association between this polymorphism and the presence of functional and/or quantitative hypocomplementemia. Conclusions The C3 GG genotype of the gene could be a susceptibility factor for AMD in the Tunisian population. However, it does not seem to influence the clinical profile of the disease.

Identifying mutations in Tunisian families with retinal dystrophy

Retinal dystrophies (RD) are a rare genetic disorder with high genetic heterogeneity. This study aimed at identifying disease-causing variants in fifteen consanguineous Tunisian families. Full ophthalmic examination was performed. Index patients were subjected to IROme analysis or whole exome sequencing followed by homozygosity mapping. All detected variations were confirmed by direct Sanger sequencing. Mutation analysis in our patients revealed two compound heterozygous mutations p.(R91W);(V172D) in RPE65, and five novel homozygous mutations: p.R765C in CNGB1, p.H337R in PDE6B, splice site variant c.1129-2A > G and c.678_681delGAAG in FAM161A and c.1133 + 3_1133 + 6delAAGT in CERKL. The latter mutation impacts pre-mRNA splicing of CERKL. The other changes detected were six previously reported mutations in CNGB3 (p.R203*), ABCA4 (p.W782*), NR2E3 (p.R311Q), RPE65 (p.H182Y), PROM1 (c.1354dupT) and EYS (c.5928-2A > G). Segregation analysis in each family showed that all affected individuals were homozygotes and unaffected individuals were either heterozygote carriers or homozygous wild type allele. These results confirm the involvement of a large number of genes in RD in the Tunisian population.Retinal dystrophies (RD) are a rare genetic disorder with high genetic heterogeneity. This study aimed at identifying disease-causing variants in fifteen consanguineous Tunisian families. Full ophthalmic examination was performed. Index patients were subjected to IROme analysis or whole exome sequencing followed by homozygosity mapping. All detected variations were confirmed by direct Sanger sequencing. Mutation analysis in our patients revealed two compound heterozygous mutations p.(R91W);(V172D) in RPE65, and five novel homozygous mutations: p.R765C in CNGB1, p.H337R in PDE6B, splice site variant c.1129-2A > G and c.678_681delGAAG in FAM161A and c.1133 + 3_1133 + 6delAAGT in CERKL. The latter mutation impacts pre-mRNA splicing of CERKL. The other changes detected were six previously reported mutations in CNGB3 (p.R203*), ABCA4 (p.W782*), NR2E3 (p.R311Q), RPE65 (p.H182Y), PROM1 (c.1354dupT) and EYS (c.5928-2A > G). Segregation analysis in each family showed that all affected individuals were homozygotes and unaffected individuals were either heterozygote carriers or homozygous wild type allele. These results confirm the involvement of a large number of genes in RD in the Tunisian population.

Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa.

Reference EPFL-ARTICLE-232697doi:10.1080/13816810.2016.1275020View record in Web of Science Record created on 2017-12-04, modified on 2017-12-11

Corrigendum: Identifying mutations in Tunisian families with retinal dystrophy

Scientific Reports 6: Article number: 37455; published online: 22 November 2016; updated: 04 May 2017 This Article contains errors. The position of the mutation p.(R91W); (V172D) was incorrectly calculated, taking as a starting point the beginning of cDNA rather than the start codon. The correct position of the mutation is c.