Hedi Rais Institute of Ophthalmology

Tunis, Tunisia

Hedi Rais Institute of Ophthalmology

Tunis, Tunisia
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Gal A.,Universitatsklinikum Hamburg Eppendorf | Rau I.,Universitatsklinikum Hamburg Eppendorf | El Matri L.,Hedi Rais Institute of Ophthalmology | Kreienkamp H.-J.,Universitatsklinikum Hamburg Eppendorf | And 13 more authors.
American Journal of Human Genetics | Year: 2011

Posterior microphthalmos (MCOP) is a rare isolated developmental anomaly of the eye characterized by extreme hyperopia due to short axial length. The population of the Faroe Islands shows a high prevalence of an autosomal-recessive form (arMCOP) of the disease. Based on published linkage data, we refined the position of the disease locus (MCOP6) in an interval of 250 kb in chromosome 2q37.1 in two large Faroese families. We detected three different mutations in PRSS56. Patients of the Faroese families were either homozygous for c.926G>C (p.Trp309Ser) or compound heterozygous for c.926G>C and c.526C>G (p.Arg176Gly), whereas a homozygous 1 bp duplication (c.1066dupC) was identified in five patients with arMCOP from a consanguineous Tunisian family. In one patient with MCOP from the Faroe Islands and in another one from Turkey, no PRSS56 mutation was detected, suggesting nonallelic heterogeneity of the trait. Using RT-PCR, PRSS56 transcripts were detected in samples derived from the human adult retina, cornea, sclera, and optic nerve. The expression of the mouse ortholog could be first detected in the eye at E17 and was maintained into adulthood. The predicted PRSS56 protein is a 603 amino acid long secreted trypsin-like serine peptidase. The c.1066dupC is likely to result in a functional null allele, whereas the two point mutations predict the replacement of evolutionary conserved and functionally important residues. Molecular modeling of the p.Trp309Ser mutant suggests that both the affinity and reactivity of the enzyme toward in vivo protein substrates are likely to be substantially reduced. © 2011 The American Society of Human Genetics.

PubMed | Hedi Rais Institute of Ophthalmology, La Rabta Hospital and Institute Pasteur Of Tunis
Type: Journal Article | Journal: American journal of human biology : the official journal of the Human Biology Council | Year: 2016

Consanguinity is common in Tunisia. However, little information exists on its impact on recessive disorders. In this study, we evaluate the impact of consanguineous marriages on the occurrence of some specific autosomal recessive disorders and consider how other factors, such as population substructure and mutation frequency, may be of equal importance in disease prevalence.Consanguinity profiles were retrospectively studied among 425 Tunisian patients suffering from autosomal recessive xeroderma pigmentosum, dystrophic epidermolysis bullosa, nonsyndromic retinitis pigmentosa, Gaucher disease, Fanconi anemia, glycogenosis type I, and ichthyosis, and compared to those of a healthy control sample.Consanguinity was observed in 341 cases (64.94%). Consanguinity rates per disease were 75.63, 63.64, 60.64, 61.29, 57.89, 73.33, and 51.28%, respectively. First-cousin marriages were the most common form of consanguinity (48.94%) with the percentages of 55.46, 45.46, 47.87, 48.39, 45.61, 56.66, and 35.90%, respectively. A very high level of geographic endogamy was also observed (93.92%), with the values by disease ranging between 75.86 and 96.64%. We observed an overall excess risk associated to consanguinity of nearly sevenfold which was proportional to the number of affected siblings and the frequency of disease allele in the family. Consanguinity was significantly associated with the first five cited diseases (odds ratio=24.41, 15.17, 7.5, 5.53, and 5.07, respectively). However, no meaningful effects were reported among the remaining diseases.This study reveals a variation in the excess risk linked to consanguinity according to the type of disorder, suggesting the potential of cryptic population substructure to contribute to disease incidence in populations with complex social structure like Tunisia. It also emphasizes the role of other health and demographic aspects such as mutation frequency and reproductive replacement in diseases etiology.

Anane S.,Tunis el Manar University | Malek I.,Hedi Rais Institute of Ophthalmology | Kamoun R.,Consultation of Ophthalmology | Chtourou O.,Clinical Dispensary of Mellassine
Journal Francais d'Ophtalmologie | Year: 2013

Introduction Phthiriasis palpebrarum is an ectoparasitosis in which Phthirus pubis infest the eyelashes. It is rare and it can easily be misdiagnosed as blepharitis. The purpose of this study is to describe seven cases of phthiriasis palpebrarum so as to discuss its mode of infestation, diagnosis and treatment. Patients and methods This is a study of all cases of phthiriasis palpebrarum reported in our laboratory. For each patient, an ophthalmic examination and parasitological examination of the eyelashes were performed. Results There were five men and two women. Their ages ranged from 4 to 50 years with an average of 21.57 years. There were four children and three adults. The main symptom was itching of the eyelids. Clinical signs included reddish-brown crusts at the base of the eyelashes in all the cases and visible lice and nits in three cases. Biomicroscopic examination showed lice and nits anchored to the eyelashes in three cases. In the other two cases, the initial diagnosis was felt to be blepharitis. In all cases, the diagnosis of phthiriasis palpebrarum was confirmed by parasitological examination of eyelashes, which revealed the presence of adult and nit forms of Phthirus pubis. The number of adult lice ranged from 1 to 30. In all cases, treatment was based on mechanical removal of both the lice and nits. Outcomes were favorable without recurrence. Conclusion In conclusion, phthiriasis palpebrarum can be easily diagnosed by close examination of the eyelashes and eyelid margins at the slit lamp and can be managed mechanically. Parasitological examination of the eyelashes can confirm the diagnosis. © 2013 Elsevier Masson SAS. Tous droits réservés.

PubMed | Tunis el Manar University and Hedi Rais Institute of Ophthalmology
Type: Journal Article | Journal: Klinische Monatsblatter fur Augenheilkunde | Year: 2016

Purpose. The aim of this pharmacogenetic study was to evaluate the impact of high-risk alleles in factor H, factor C3 and vascular endothelial growth factor (VEGF) on the response to intravitreal bevacizumab in patients with neovascular age-related macular degeneration (AMD) in a Tunisian population. Methods. Ninety patients with active neovascular AMD treated with intravitreal bevacizumab injections were enrolled in the study. Treatment response was evaluated by comparing BCVA at baseline and at 12 months. Patients were classified into either poor responders (PR) or good responders (GR). Single nucleotide polymorphism (SNP) genotyping was performed for rs1061170 in FH, rs2230199 in C3 andrs699947, rs2010963 and rs3025039 in VEGF. The association between genotype and visual response at 12 months was assessed. Results. Seventy-seven participants were assigned to the GR group and 13 to the PR group. No correlation was found between FH, C3 and VEGF variant alleles and treatment response. However, haplotype analysis of rs699947 ((-2578) C/A), rs2010963 ((+405) C/G) and rs3025039 ((+936) C/T) SNPs revealed that the AGT haplotype was associated with a poor response at 12months (p=0.048). No association was found between treatment response and the cumulative effect of all high-risk alleles of C3, FH and VEGF. All three types of CNV were found in both groups at a comparable frequency. Conclusions. The VEGF haplotype TGA could be used as a marker for poor visual prognosis in Tunisian patients with neovascular AMD treated with bevacizumab.

El Matri L.,Hedi Rais Institute of Ophthalmology
Ophthalmic surgery, lasers & imaging : the official journal of the International Society for Imaging in the Eye | Year: 2012

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). 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. 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)). 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. Copyright 2012, SLACK Incorporated.

El Matri L.,Hedi Rais Institute of Ophthalmology | Kort F.,Hedi Rais Institute of Ophthalmology | Bouraoui R.,Hedi Rais Institute of Ophthalmology | Karim B.,Hedi Rais Institute of Ophthalmology | And 2 more authors.
Acta Ophthalmologica | Year: 2011

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. Methods: A retrospective case series of eighteen eyes of 17 patients with CNV secondary to angioid streaks treated with intravitreal bevacizumab between October 2006 and May 2008. Ophthalmic evaluation including best corrected visual acuity (BCVA), slit lamp biomicroscopic examination, optical coherence tomography (OCT) and fluorescein angiography, was performed before and after treatment. Retreatment was given every 4-6 weeks in case of persistent symptoms or CNV activity on OCT. Main outcome measures were changes in BCVA and central retinal thickness on OCT. Results: The mean number of injections was 4.8 at 1 year. Twelve eyes (66.6%) received five injections or more. The mean BCVA at baseline was 20/80 (range 20/400 to 20/32) and improved to 20/44 (range 20/160 to 20/20) at 1 year (p = 0.014). The BCVA improved by three or more lines in eleven eyes (61.11%) and remained within two lines of baseline in seven eyes (38.8%). Mean central retinal thickness was 404.2 μm (range 160-602 μm) at baseline and decreased to 300.5 μm (range 150-523 μm) at 1 year (p = 0.022). No ocular or systemic complications were noted. Conclusion: The 1-year outcomes suggest intravitreal bevacizumab to be a promising treatment for CNV associated with angioid streaks, resulting in both functional and anatomical improvements. Repeated injections are needed to maintain these results. Further long term studies are required to confirm these findings. © 2010 The Authors. Journal compilation © 2010 Acta Ophthalmol.

To evaluate the clinical characteristics and therapeutic challenges of retinal detachment in highly myopic eyes. We retrospectively reviewed the medical records of 83 eyes in 79 patients with high myopia (> 6.00 diopters or axial length > or = 26.00 mm) who underwent surgery for retinal detachment between 2001 and 2008. The surgical approaches depended on the type and location of the retinal break, the degree of myopia, and the grade of PVR. The mean age of patients (48 men and 31 women) was 53.9 years. Refractive error ranged from - 10 D to - 25 D (mean was - 14.0 D). The mean follow-up was 19.4 months. Peripheral or equatorial retinal tears were present in 52 cases (62.6%), a macular hole in 14 cases (16.8%), a giant retinal tear in 6 cases (7.2%), and posterior paravascular retinal tears in 11 cases (13.2%). Single-surgery anatomic success was achieved in 65 cases (78.3%), with 17 cases after scleral buckle surgery and 46 cases after pars plana vitrectomy. Final anatomic success was achieved in 76 cases (91.5%). Per and postoperative hemorrhagic complications occurred in 16 cases (19.2%). Retinal detachment is a serious complication of high myopia. It often occurs in young patients. Treatment is difficult due to anatomical and clinical conditions.

El Matri L.,Hedi Rais Institute of Ophthalmology | Chebil A.,Hedi Rais Institute of Ophthalmology | Kort F.,Hedi Rais Institute of Ophthalmology | Bouraoui R.,Hedi Rais Institute of Ophthalmology | And 2 more authors.
Graefe's Archive for Clinical and Experimental Ophthalmology | Year: 2010

Purpose: To discuss the effect and outcome of a combined intravitreal triamcinolone acetonide (IVTA) injection with intravitreal bevacizumab (IVB) in treating choroidal neovascularization (CNV) associated with large retinal pigment epithelial detachment (PED) in age-related macular degeneration (AMD). Design: Prospective, consecutive, observational case series. Methods: Seven eyes (five patients) with CNV associated with large PED in AMD were treated by IVTA (4 mg/ 0.1 ml), followed by a IVB (1.25 mg/0.05 ml) 1 week later. Patients were evaluated for best-corrected visual acuity (BCVA) and optical coherence tomography (OCT) at baseline, at 1 week and every 6 weeks. Fluorescein angiography (FA) and indocyanine green angiography (ICG) were performed at baseline and every 3 months afterwards. Indications for retreatment by combined injection were defined as persistent PED with subretinal and/or intraretinal fluid on OCT. Patients with flattening of the PED and activity leakage demonstrated by OCT underwent subsequent IVB. Results: The mean duration of follow-up was 11 months (range 9-14 months). BCVA at baseline averaged 20/125, and 20/80 at the end of follow-up. FA showed no leakage from the lesion in four eyes at the end of follow-up, and three eyes showed a decrease in leakage. Average central foveal thickness was (CFT) 325.7 microns at baseline and 209.2 microns at the end. The average size of the PED was 2.34 disk diameters (range 1.33-3.25) at baseline, and the PED disappeared in four eyes, while it decreased in size at the end in the remaining three. The subretinal fluid disappeared in all patients at the end. The combined treatment (IVTA with IVB 1 week later) was repeated in four eyes, and the number of IVB after combined injection ranged from one to three. No RPE tear appeared during follow-up. Two eyes developed glaucoma controlled by topical medication. There were no other ocular or systemic complications Conclusion: Combined IVB and IVTA therapy seems to be an effective and safe procedure to treat CNV associated with large PED in AMD. © 2010 Springer-Verlag.

Limaiem R.,Hedi Rais Institute of Ophthalmology | Chebil A.,Hedi Rais Institute of Ophthalmology | Baba A.,Hedi Rais Institute of Ophthalmology | Ben Youssef N.,Hedi Rais Institute of Ophthalmology | And 2 more authors.
Transplantation Proceedings | Year: 2011

Purpose: This report evaluates patient characteristics, indications, and outcomes of pediatric keratoplasty, and identifies variables that help to predict poor surgical outcomes. Methods: We undertook a retrospective review of all cases in our department of primary penetrating keratoplasty performed in children 14 years of age or younger between January 2003 and December 2009. Results: Sixteen primary penetrating keratoplasties were performed during the study interval. Mean age was 11.2 years (3 to 14 years) and the gender ratio was 2. The mean duration of follow-up was 16 months (2 to 36 months).The surgical indications were acquired traumatic opacities in 6 cases, keratoconus in 5 cases, corneal perforation secondary to infectious keratitis in 3 cases, hereditary corneal dystrophy in 1 case, and acquired non-traumatic opacities secondary to congenital glaucoma in one case. The initial visual acuity was less than 1/20 in 68% of cases and the mean final visual acuity after 1 year was 2/10. The graft was clear in 52% of cases after 1 year of follow-up. Postoperative complications were graft failure (24%), ocular inflammation (5%), and ocular trauma (19%). Conclusion: Penetrating keratoplasty in children has been documented to have a higher rate of graft failure and a worse visual prognosis than adult keratoplasty. Poor prognosis outcomes were especially caused by noncooperation of parents and postoperative ocular trauma. © 2011 by Elsevier Inc. All rights reserved.

El Matri L.,Hedi Rais Institute of Ophthalmology | Kort F.,Hedi Rais Institute of Ophthalmology | Chebil A.,Hedi Rais Institute of Ophthalmology | Bouraoui R.,Hedi Rais Institute of Ophthalmology | And 2 more authors.
Graefe's Archive for Clinical and Experimental Ophthalmology | Year: 2011

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. © 2011 Springer-Verlag.

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