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We report the molecular basis of the largest Tunisian cohort with inherited retinal dystrophies (IRD) reported to date, identify disease-causing pathogenic variants and describe genotype–phenotype correlations. A subset of 26 families from a cohort of 73 families with clinical diagnosis of autosomal recessive IRD (AR-IRD) excluding Usher syndrome was analyzed by whole exome sequencing and autozygosity mapping. Causative pathogenic variants were identified in 50 families (68.4%), 42% of which were novel. The most prevalent pathogenic variants were observed in ABCA4 (14%) and RPE65 , CRB1 and CERKL (8% each). 26 variants (8 novel and 18 known) in 19 genes were identified in 26 families (14 missense substitutions, 5 deletions, 4 nonsense pathogenic variants and 3 splice site variants), with further allelic heterogeneity arising from different pathogenic variants in the same gene. The most common phenotype in our cohort is retinitis pigmentosa (23%) and cone rod dystrophy (23%) followed by Leber congenital amaurosis (19.2%). We report the association of new disease phenotypes. This research was carried out in Tunisian patients with IRD in order to delineate the genetic population architecture.

Purpose: To compare the therapeutic impact of combining intravitreal injections of bevacizumab (IVB) with micropulse laser (MPL) in central diffuse diabetic macular edema (DME) versus IVB monotherapy during 12 months follow-up. Methods: We conducted a retrospective comparative study of 98 treatment-naive eyes (63 patients) with central diffuse DME. The first group of patients (IVB + MPL group, n = 49) was treated with 3 monthly IVB followed by MPL within 1 week after the third injection. Patients were then followed and treated on a pro re nata (PRN) basis, with MPL retreatment if necessary. The changes in best-corrected visual acuity (BCVA), central macular thickness (CMT), number of IVB injections and MPL sessions were evaluated at 4, 8, and 12 months. A control group of diabetic patients with treatment-naive DME was treated with standard protocol of 3 monthly IVB as monotherapy then followed on a PRN basis (IVB group, n = 49). Statistic comparaison of BCVA, CMT, and IVB number variation was interpreted at 12 months between both groups. Results: In IVB + MPL group, baseline BCVA improvement was not significant at 4 and 8 months (p = 0.90, p = 0.08), and was statistically significant (p = 0.01) at 12 months. Mean CMT significantly decreased at 4, 8, and 12 months (p < 0.01) in IVB + MPL group. The difference in BCVA (p = 0.091) and CMT (p = 0.082) variation at 12 months between both groups was not significant but the number of injections was significantly lower in IVB + MPL group (4.1 ± 1.5 injections) compared to IVB group (7.2 ± 1.3 injections) (p < 0.005). Conclusion: Combining intravitreal injections of bevacizumab and MPL in the treatment of DME is effective and safe. This protocol may decrease the number of IVB and its frequency. It offers the advantage of lasting therapeutic response with fewer recurrences.

PurposeOur aim was to highlight the presence and the frequency of posterior staphyloma (PS) in non-highly myopic retinitis pigmentosa (RP) patients and to study the relationship between PS and choroidal thickness (CT).MethodsThis was a retrospective case–control study of 77 eyes (39 patients) with RP, axial length inferior to 26 mm and clinically preserved macular area. All patients underwent fundus photography, A- and B-scan ocular ultrasonography, fundus autofluorescence (FAF) and swept source optical coherence tomography (SS-OCT). PS was defined by an outward bowing of the sclera on SS-OCT and B-scans. The relationship between the PS and SS-OCT layers thicknesses was determined.ResultsOver 77 RP eyes of 39 patients studied, a PS was identified in 17 eyes (22%) of nine patients. Fifteen eyes had a narrow macular staphyloma (NMS), and two eyes had a wide macular staphyloma (WMS). Mean age in this group was 34.2 years (range 19–53 years), mean axial length was 23.60 ± 0.61 mm and mean CT was 185.7 ± 71 um versus 259.7 um in eyes without PS. The staphyloma edges corresponded to area of outer retina loss on SS-OCT and were larger than the hyperautofluorescent ring on FAF.We found a significant association between PS and CT in our RP patients (p = 0.003).The mean CT was significantly thinner in PS eyes compared to eyes without staphyloma. There was no significant association between PS and with visual acuity, years of progression, retinal thickness nor FAF findings.ConclusionsPS was present in 22% of non-highly myopic eyes with RP. Narrow macular staphyloma was the most common type observed in our series. A marked thinning of the choroid was noted in PS eyes when compared to RP eyes without PS, as well as the outer retina degeneration.

Retinal dystrophies (RD) are a group of Mendelian disorders caused by rare genetic variations leading to blindness. A pathogenic variant may manifest in both dominant or recessive mode and clinical and genetic heterogeneity makes it difficult to establish a precise diagnosis. In this study, families with autosomal dominant RD in successive generations were identified, and we aimed to determine the disease's molecular origin in these consanguineous families. Whole exome sequencing was performed in the index patient of each family. The aim was to determine whether these cases truly represented examples of dominantly inherited RD, or whether another mode of inheritance might be applicable. Six potentially pathogenic variants in four genes were identified in four families. In index patient with enhanced S-cone syndrome in F1, we identified a new digenetic combination: a heterozygous variant p.[G51A];[=] in RHO and a homozygous pathogenic variant p.[R311Q];[R311Q] in NR2E3 . Helicoid subretinal fibrosis associated with recessive NR2E3 variant p.[R311Q];[R311Q] was identified in F2. A new frameshift variant c.[105delG];[105delG] in RDH12 was found in F3 with cone-rod dystrophy. In F4, the compound heterozygous variants p.[R964 * ];[W758 * ] were observed in IMPG2 with a retinitis pigmentosa (RP) phenotype. We showed that both affected parents and the offspring, were homozygous for the same variants in all four families. Our results provide evidence that in consanguineous families, autosomal recessive can be transmitted as pseudodominant inheritance in RD patients, and further extend our knowledge of pathogenic variants in RD genes.

To evaluate the characteristics of astigmatism in a cross-sectional study of schoolchildren in Tunisia. 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. 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). 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.

To report a case of bilateral granulomatous post-streptococcal syndrome uveitis in association with reactive arthritis as manifestation of post-streptococcal syndrome. To our knowledge, this could represent the first reported case in the literature. A 9-year-old girl, with no past ocular history, presented with a 5-day history of bilateral blurred vision, red eyes, photophobia and walking difficulties because of a right ankle pain. Ophthalmic examination disclosed a visual acuity limited to hand motion, mutton-fat keratic precipitates, anterior chamber cells and posterior synechiae in both eyes. Ocular pressure was normal. Physical examination showed a fever (38 °C), inflammatory ankle arthritis and scarlet fever (streptococcal lesion). Anti-streptococcal lysine O titer was 419 μ/ml. The patient was treated with topical steroids, cycloplegics, high-dose oral steroids and preventive course of penicillin with total improvement and no recurrence. Post-streptococcal syndrome should be considered in the etiology of acute bilateral granulomatous uveitis in children, and anti-streptococcal lysine O titer should be considered in serodiagnostic testing.

Purpose To compare the 1-year functional and anatomical outcomes of intravitreal bevacizumab (IVB) and photodynamic therapy (PDT) in patients with myopic choroidal neovascularization (CNV). Methods Review of retrospectively collected data of 80 eyes in 80 patients with myopic CNV treated with standard PDT ( n  = 40) or IVB (1.25 mg/ 0.05 ml) ( n  = 40). Best-corrected visual acuity (BCVA) and central retinal thickness (CRT) measured with optical coherence tomography (OCT) were compared between the two groups at baseline, 3, 6 and 12 months. Results In the IVB group, mean BCVA was +0.9 ± 0.85 logMAR at baseline. Mean BCVA was significantly better at 3 and 6 months than baseline ( p  = .0095 and p  = .008, respectively) but not at 12 months ( p  = .065). In the PDT group, mean BCVA was +0.88 ± 0.45 logMAR at baseline, and improved to +0.85 ± 0.62 logMAR at 3 months and to +0.86 ± 0.44 logMAR at 6 months, which was not significantly different from baseline. Mean BCVA then decreased to +0.9 ± 0.54 logMAR at 12 months ( p  = .85). Mean logMAR VA was significantly better in the IVB group than in the PDT group after 3 months ( p  = .0043), 6 months ( p  = .0001) and 12 months ( p  = .0168). Mean CRT was significantly lower in IVB group than in PDT group at 3, 6 and 12 months ( p  = .008, p  = .038, p  = .040, respectively). Chorioretinal atrophy developed in six eyes (15%) treated with IVB and in 24 eyes (60%) treated with PDT at 12 months ( p  = 3.2 × 10 −5 ). Conclusions Over a 12-month period, intravitreal bevacizumab seems to be superior to photodynamic therapy in controlling myopic CNV in a North-African population.

To assess the progression of Stargardt (STGD) disease over nine years in two branches of a large consanguineous Tunisian family. Initially, different phenotypes were observed with clinical intra- and interfamilial variations. At presentation, four different retinal phenotypes were observed. In phenotype 1, bull’s eye maculopathy and slight alteration of photopic responses in full-field electroretinography were observed in the youngest child. In phenotype 2, macular atrophy and yellow white were observed in two brothers. In phenotype 3, diffuse macular, peripapillary, and peripheral RPE atrophy and hyperfluorescent dots were observed in two sisters. In phenotype 4, Stargardt disease-fundus flavimaculatus phenotype was observed in two cousins with later age of onset. After a progression of 9 years, all seven patients displayed the same phenotype 3 with advanced stage STGD and diffuse atrophy. WES and MLPA identified two ABCA4 mutations M1: c.[(?_4635)_(5714+?)dup; (?_6148)_(6479_+?) del] and M2: c.[2041C>T], p.[R681∗]. In one branch, the three affected patients had M1/M1 causal mutations and in the other branch the two affected patients had M1/M2 causal mutations. After 9-year follow-up, all patients showed the same phenotypic evolution, confirming the progressive nature of the disease. Genetic variations in the two branches made no difference to similar end-stage disease.

BACKGROUND AND OBJECTIVE:To measure macular choroidal thickness (CT) using spectral-domain optical coherence tomography (OCT) and to investigate the correlation between CT and age, degree of myopia, and history of macular choroidal neovascularization (CNV).PATIENTS AND METHODS:A cross-sectional study included 187 highly myopic eyes of 187 patients examined between January and December 2010. The choroid was imaged with spectral-domain OCT by changing the reference position from the vitreous to the choroid. CT was measured from the outer border of the hyperreflective line corresponding to the retinal pigment epithelium to the inner scleral border. RESULTS:The mean age was 47.21 ± 14.24 years, the mean spherical equivalent refractive error was −13.66 ± 5.77, and the mean subfoveal CT was 100.71 ± 59.98 μm. CT was correlated negatively with age (P < 10−3) and refractive error (P < 10−3). Forty-two eyes had a history of CNV, the mean CT was 55.45 ± 24.46 μm, and this was significantly thinner than in eyes without CNV (P < 10−3). CONCLUSION:In highly myopic eyes, the choroid is thin and undergoes further attenuation with age and increasing myopia. In addition, these findings suggest that the choroid may play a role in the pathogenesis of CNV.

In this paper, we introduce a new method for face recognition in multi-resolution images. The proposed method is composed of two phases: an off-line phase and an inference phase. In the off-line phase, we built the Kernel Partial Least Squares (KPLS) regression model to map the LR facial features to HR ones. The KPLS predictor was then used in the inference phase to map HR features from LR features. We applied in both phases the Block-Based Discrete Cosine Transform (BBDCT) descriptor to enhance the facial feature description. Finally, the identity matching was carried out with the K-Nearest Neighbor (KNN) classifier. Experimental study was conducted on the AR and ORL databases and the obtained results proved the efficiency of the proposed method to deal with LR and VLR face recognition problem.