A5091907899- Retinal Diseases and Treatments
- Retinal Development and Disorders
- Ocular Diseases and Behçet’s Syndrome
- Retinal Imaging and Analysis
- Ocular Disorders and Treatments
- Retinal and Optic Conditions
- Glaucoma and retinal disorders
- Neurological diseases and metabolism
- Complement system in diseases
- Genomics and Rare Diseases
- Retinopathy of Prematurity Studies
- Hereditary Neurological Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Advanced biosensing and bioanalysis techniques
- Genetics and Neurodevelopmental Disorders
- Corneal surgery and disorders
- Genetic Syndromes and Imprinting
- Genetic and Kidney Cyst Diseases
- Genomic variations and chromosomal abnormalities
- Photoreceptor and optogenetics research
- MicroRNA in disease regulation
- IL-33, ST2, and ILC Pathways
- Erythrocyte Function and Pathophysiology
- Ion channel regulation and function
- Galectins and Cancer Biology
University of Lausanne
2022-2024
Institut de Recherche en Opthalmologie
2016-2021
Tunis El Manar University
2012-2017
École Polytechnique Fédérale de Lausanne
2015-2017
Hopital Universitaire Hedi Chaker
2016
Faculté de médecine de Tunis
2016
Hôpital Charles-Nicolle
2010-2014
Laboratory of Molecular Genetics
2011
Abstract Retinal dystrophies (RD) are a rare genetic disorder with high 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 confirmed direct Sanger sequencing. Mutation our revealed two compound heterozygous mutations p.(R91W);(V172D) RPE65, and five novel...
Mutations in BEST1 cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD), AD vitreo-retino-choroidopathy (ADVIRC), and retinitis pigmentosa-50 (RP50). A rare subtype of Bestrophinopathy exists with biallelic mutations BEST1. Its frequency is estimated to be 1/1,000,000 individuals. Here we report 6 families searched for a genotype-phenotype correlation. All patients were referred due reduced best-corrected visual acuity (BCVA), ranging...
Aim: Interleukin (IL)-18 can regulate the Th2-mediated immune response and it may be involved in pathogenesis of Th1 Th2 chronic inflammatory diseases. This study sought to detect a possible association between two single nucleotide polymorphisms (SNPs) (–137G/C –607C/A) IL-18 gene promoter region susceptibility bowel disease (IBD) including Crohn’s (CD) ulcerative colitis (UC) Tunisian population. Methods: The polymorphism was analyzed 105 patients with CD, 59 UC, 100 controls using...
Abstract DEPDC5 (DEP Domain-Containing Protein 5) encodes an inhibitory component of the mammalian target rapamycin (mTOR) pathway and is commonly implicated in sporadic familial focal epilepsies, both non-lesional association with cortical dysplasia. Germline pathogenic variants are typically heterozygous inactivating. We describe a novel phenotype caused by germline biallelic missense DEPDC5. Cases were identified clinically. Available records, including magnetic resonance imaging...
Abstract Background/Objectives This study aims to elucidate the genetic causes of congenital hypogonadotropic hypogonadism (CHH), a rare disorder resulting in GnRH deficiency, six families from Pakistan. Methods Eighteen DNA samples underwent genome sequencing followed by standard evaluation for pathogenic single nucleotide variants (SNVs) and small indels. All were subsequently analyzed copy number (CNVs) using CoverageMaster. Results Novel homozygous SNVs known CHH genes identified four...
<b>Purpose.</b> The aim of this pharmacogenetic study was to evaluate the impact high-risk alleles in factor H, C3 and vascular endothelial growth (VEGF) on response intravitreal bevacizumab patients with neovascular age-related macular degeneration (AMD) a Tunisian population. <b>Methods.</b> Ninety active AMD treated injections were enrolled study. Treatment evaluated by comparing BCVA at baseline 12 months. Patients classified into either "poor responders" (PR) or "good (GR). Single...
Abstract We report the molecular basis of largest Tunisian cohort with inherited retinal dystrophies (IRD) reported to date, identify disease-causing pathogenic variants and describe genotype–phenotype correlations. A subset 26 families from a 73 clinical diagnosis autosomal recessive IRD (AR-IRD) excluding Usher syndrome was analyzed by whole exome sequencing autozygosity mapping. Causative were identified in 50 (68.4%), 42% which novel. The most prevalent observed ABCA4 (14%) RPE65 , CRB1...
To evaluate a possible association between the complement factor H (CFH) Y402H polymorphism and susceptibility to age-related macular degeneration (AMD) in Tunisian population, as well impact of genotype distribution among different phenotypes response treatment with intravitreal bevacizumab, exon 9 <i>CFH</i> was analyzed for by direct sequencing 135 healthy controls 127 sporadic unrelated AMD patients classified into following groups: 12 atrophic (group G1), 115 exudative (G2)...
Three VEGF SNPs (-2578) C/A, (+405) G/C and (+936) C/T were investigated in Tunisian exudative AMD patients order to determine their association with the disease susceptibility influence intravitreal bevacizumab therapy response.145 207 age-matched controls included. 68 treated bevacizumab. genotyping performed using direct sequencing. The serum was assayed by ELISA (R&D).The CC TT genotypes higher than (p = 5 × 10(-6) p 0.021, respectively). mean plasma levels of statistically (84.22 pg/ml)...
Purpose: To report multimodal imaging findings including optical coherence tomography angiography (OCT-A) of a patient presenting with quiescent choroidal neovascularization (CNV) in one eye and an active CNV the fellow eye, complicating retinitis pigmentosa (RP) linked to PRPH2 pathogenic variant, follow-up management both eyes. Methods: Observational case report. Results: A 40-year-old female history autosomal dominant RP consulted for acute visual loss her right (RE). Multimodal OCT-A...
Abstract Background Retinitis pigmentosa (RP) affects 2.5 million people worldwide. Increased identification of causative gene defects and the increasing possibility treatment necessitates better knowledge phenotype-genotype correlations to help identify patients who would benefit from targeted therapy improve patientsʼ care. Here, we report on three RP with mutations in PDE6Β Gene that have not been described previously. History Signs Three a mutation were identified: 1. A 30-year-old male...
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 heterogeneity makes it difficult establish precise diagnosis. In this study, families with autosomal RD successive generations were identified, we aimed determine the disease's molecular origin these consanguineous families. Whole exome sequencing was performed index patient each family. The aim...
Purpose: We report the case of a neurologically asymptomatic young boy presenting with an unusual phenotype CYP2U1 related macular dystrophy associating bilateral telangiectasia (MacTel) and fibrotic choroidal neovascularization (CNV), assessed complete multimodal imaging including optical coherence tomography angiography (OCT-A). Case presentation: A twelve-year-old from non-consanguineous family complained progressive visual loss photophobia. The best-corrected acuity was 2/10 on right eye...
To assess the progression of Stargardt (STGD) disease over nine years in two branches a large consanguineous Tunisian family. Initially, different phenotypes were observed with clinical intra- and interfamilial variations. At presentation, four retinal observed. In phenotype 1, bull’s eye maculopathy slight alteration photopic responses full-field electroretinography youngest child. 2, macular atrophy yellow white brothers. 3, diffuse macular, peripapillary, peripheral RPE hyperfluorescent...
Abstract Disclosure: F.A. Correa: None. A. Boizot: Z. Kolesinska: I. Habibi: J. Zhai: Y. Zouaghi: F. Phan-Hug: D. l'Allemands: M. Antoniou: Pignatelli: Lang-Muritano: Niedziela: G. Papadakis: Ameti: N. Niederlander: S. Acierno: Ternier: P. Giacobini: Santoni: Messina: Pitteloud: Background: Congenital hypopituitarism (CH) is a rare heterogeneous genetic disorder characterized by deficiency of pituitary hormones. CH can be associated with extra phenotypes such as midline craniofacial...
Abstract: We carried out a protein and genetic investigation of the ¬factor H gene mutations within two families presenting with diagnostic suspicion atypical hemolytic uremic syndrome (aHUS). The results patients first family revealed factor H-deficiency. Direct sequencing allowed detection 4-nucleotide deletion in gene. This was found as homozygote form proband heterozygote parents. Protein functional analyses complement system were normal all members second family. However, molecular for...
<b>Purpose</b> To explore the association between polymorphism (S/F) p.R102G in <i>complement component 3 (</i>C3<i>)</i> gene and age-related macular degeneration (AMD) a Tunisian population. <b>Methods</b> The molecular study was performed by polymerase chain reaction using sequence-specific primers (PCR-SSP) 207 control subjects free of any eye disease (fundus normal) 145 patients with exudative AMD. <i>CH50</i> activity quantification <i>C3</i> <i>C4</i> have been made technical home...
Purpose The aim of this study was to identify the gene causing retinitis pigmentosa (RP) in a Tunisian family. Methods Three members consanguineous family were clinically examined and given best-corrected visual acuity (BCVA), slit lamp biomicroscopy, fundus photography optical coherence tomography scanning (OCT) testing. Blood samples collected for DNA extraction. Regions homozygosity further analyzed index case whole exome sequencing performed. All detected mutations candidate genes...