Retinal changes in multiple sclerosis: An optical coherence tomography and angiography study.

BACKGROUND: Multiple sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system with neuroaxonal damage. It is the principal driver of non-traumatic disability in young adults. Visual symptoms are common and optic neuritis (ON) may be the revealing feature in up to 30% of cases. Structural optical coherence tomography (OCT) represents a biomarker of central nervous system neurodegeneration in MS. OCT-angiography (OCT-A) is a noninvasive tool allowing the study of retinal vasculature and the detection of microvascular damage in neuro-retinal diseases. In this study, we aimed to assess structural and microvascular retinal changes in patients with MS with and without ON and to correlate the findings with visual function and MS disability. METHODS: We conducted a cross-sectional study including patients diagnosed with MS according to the 2017 McDonald criteria. All patients underwent complete neurological examination with evaluation of the Expanded Disability Status Scale (EDSS) and the Multiple Sclerosis Severity Score (MSSS) and an ophthalmological examination including OCT and OCT-A. Patients were compared with age- and sex-matched healthy subjects. The primary endpoints were assessment of retinal nerve fiber layer (RNFL) thickness, ganglion cell layer (GCL+), and ganglion cell complex (GCL++) thicknesses on OCT. Vascular densities in the superficial capillary plexus (SCP), deep capillary plexus (DCP), and choriocapillaris (CC) were assessed on OCT-A, as well as central avascular zone (CAZ) parameters, lacunarity and fractal dimension. RESULTS: A total of 160 MS eyes with and without a previous history of ON and 64 age- and gender-matched healthy eyes were analyzed. Among 160 eyes with MS, 69 had a history of ON. We observed a decrease in RNFL and GCL++ thickness in all 12 quadrants in MS patients when compared to healthy controls. Multivariate analysis by linear regression noted a significant correlation for temporal GCL++ and inferonasal RNFL thickness that were decreased in the MS group. A greater decrease in retinal layers thickness was identified in MS patients with a history of ON. On OCT-A, vascular density in (SCP) was significantly reduced in the MS group (P<0.002). A significant correlation between RNFL thickness and retinal vascular density was found but only in less than half of the hourly quadrants. A significant correlation was noted between visual acuity and CC density (P<0.0001). We also noted an inverse correlation between EDSS scores and CC density (P=0.02 and r=-0.275) and between MSSS and RNFL/GCL++ thicknesses. CONCLUSIONS: RNFL and GCL++ layers were thinner in MS patients with a history of ON and were reversely correlated with disease severity. Moreover, retinal vascular changes were observed in MS even in eyes without ON, and CC was reversely correlated with visual function and current disability. Thus, structural OCT coupled with OCT-A could represent a noninvasive and dynamic biomarker of MS severity and progression.

Combined central retinal artery occlusion and anterior ischemic optic neuropathy as presenting signs of systemic lupus erythematosus.

Systemic Lupus Erythematosus (SLE) is a chronic auto-immune condition with systemic and ocular involvement. Ophthalmological findings are diverse and can involve all layers of the globe. Posterior segment manifestations can include lupus retinopathy, retinal vascular occlusions and lupus choroidopathy. We report here a rare case of central retinal artery occlusion (CRAO) associated with anterior ischemic optic neuropathy (AION) in a young female patient as presenting signs of SLE. In this case report, we highlight a very uncommon initial presentation of this severe systemic vasculitis. A multidisciplinary approach is required in order to prevent life-threatening vaso-occlusive complications.

Facteurs pronostiques des carcinomes épidermoïdes non métastatiques du larynx

Etudier les facteurs influençant le pronostic des carcinomes épidermoïdes du larynx. Méthodes: Etude rétrospective analytique menée sur 100 patients présentant un carcinome épidermoïde primitif du larynx, durant une période de 24 ans (1992­2015). Résultats: La survie globale à 1 an, à 3 ans et à 5 ans a été respectivement de 99 %, de 77 % et de 63 %. La survie sans maladie à 1 an, à 3 ans et à 5 ans a été respectivement de 88 %, de 76 % et de 63 %. L'étude univariée de la survie globale et la survie sans maladie a montré un impact péjoratif de l'atteinte ganglionnaire histologique, de l'engainement péri-nerveux et des limites chirurgicales tumorales (facteurs histo-pronostiques). Dans l'étude multivariée, seuls le stade T, le stade N, l'atteinte sous-glottique, l'atteinte du cartilage thyroïde et le délai de la radiothérapie postopératoire ont présenté un impact significatif sur la survie sans maladie. Aucun facteur n'a présenté d'impact significatif sur la survie globale, en analyse multivariée. L'étude statistique de la récidive n'a montré aucun facteur prédictif. Conclusion: Le stade tumoral et les facteurs histo-pronostiques sont les 2 facteurs pronostiques majeurs. Dans la littérature, Les principaux facteurs prédictifs de récidive sont: le stade tumoral, les limites chirurgicales tumorales et l'extension extra-nodale. Dans notre étude, aucun facteur prédictif n'a été trouvé.

Facteurs pronostiques des carcinomes épidermoïdes non métastatiques du larynx / Prognostic factors in laryngeal non-metastatic squamous cell carcinomas

But: Etudier les facteurs influençant le pronostic des carcinomes épidermoïdes du larynx. Méthodes: Etude rétrospective analytique menée sur 100 patients présentant un carcinome épidermoïde primitif du larynx, durant une période de 24 ans (1992­2015). Résultats: La survie globale à 1 an, à 3 ans et à 5 ans a été respectivement de 99 %, de 77 % et de 63 %. La survie sans maladie à 1 an, à 3 ans et à 5 ans a été respectivement de 88 %, de 76 % et de 63 %. L'étude univariée de la survie globale et la survie sans maladie a montré un impact péjoratif de l'atteinte ganglionnaire histologique, de l'engainement péri-nerveux et des limites chirurgicales tumorales (facteurs histo-pronostiques). Dans l'étude multivariée, seuls le stade T, le stade N, l'atteinte sous-glottique, l'atteinte du cartilage thyroïde et le délai de la radiothérapie postopératoire ont présenté un impact significatif sur la survie sans maladie. Aucun facteur n'a présenté d'impact significatif sur la survie globale, en analyse multivariée. L'étude statistique de la récidive n'a montré aucun facteur prédictif. Conclusion: Le stade tumoral et les facteurs histo-pronostiques sont les 2 facteurs pronostiques majeurs. Dans la littérature, Les principaux facteurs prédictifs de récidive sont: le stade tumoral, les limites chirurgicales tumorales et l'extension extra-nodale. Dans notre étude, aucun facteur prédictif n'a été trouvé.

Contribution of OCT angiography in angioid streaks.

PURPOSE: To study the appearance of angioid streaks (AS) in swept source optical coherence tomography angiography. METHODS: Retrospective observational study of 16 patients (31 eyes) with various stages of AS. All included patients underwent complete ophthalmologic examinations including best-corrected visual acuity (BCVA), slit-lamp examination, indirect ophthalmoscopy and fundus photography. Swept source optical coherence tomography (SS-OCT), OCT angiography (OCT-A) and fluorescein angiography were also performed. RESULTS: En face OCT detected hyper-reflective points in 65% of cases, with a choriocapillaris (CC) shadow on the corresponding OCT-A. Diffuse CC rarefaction was detected in 94%. In eyes without neovascular complications, streaks were visible as a hyposignal in the outer retina. An irregular vascular network (IVN) was detected in 80% of eyes. It filled the spaces between the AS and corresponded to flat elevation of the retinal pigmentary epithelium. Twenty-four eyes had choroidal neovascularization (CNV). CNV was type 1 in 8%, type 2 in 43%, mixed in 20% and unclassified in 29% because of a large scar. We found multiple sites of CNV in 8% of cases. CNV shape was tangled in 66% and in 2 eyes with newly diagnosed CNV. OCT-A showed a perilesional halo around new CNV. The morphology and configuration of neovascular network follow the IVN and the path of the AS and arises in proximity to sites of BM disruption. CONCLUSION: OCT-A allows early detection and monitoring of AS and their neovascular complications. It shows CC rarefaction, IVN and a predominantly tangled shape of CNV. However, there are some limitations associated with difficulty in characterizing signs of CNV activity.

[Contribution of multimodal imaging in the various stages of Stargardt disease]. / Intérêt de l'imagerie multimodale dans les différents stades de la maladie de Stargardt.

PURPOSE: To describe the contribution of multimodal imaging in the various stages of Stargardt disease (STGD). PATIENTS AND METHODS: We retrospectively reviewed 46 eyes of 23 STGD patients with identified ABCA4 mutations. All patients underwent a complete ophthalmic examination, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF), fluorescein angiography (FA) and Indocyanine green angiography (ICGA). RESULTS: The mean age of patients was 25.5 years (range 8-56). Fundus examination was normal in 2 patients (subclinical stage), where SD-OCT showed localized retrofoveolar retinal pigment epithelium (RPE) thickening. FAF was normal in 1 eye and showed mild heterogeneous hyper-FAF in 3 eyes. Twelve eyes had mild salt and pepper changes in the macula (early stage) with diffuse retinal atrophy on SD-OCT and mixed hyper and hypoautofluorescence on FAF. Nine patients showed central atrophy with white-yellow flecks distributed in the posterior pole and mid-periphery. This phenotype showed total foveal atrophy on SD-OCT and normal peripapillary area on FAF. Twelve eyes had a large demarcated area of RPE atrophy, pigment clumping and migration extending to the peripheral retina associated with peripapillary atrophy. These eyes showed diffuse retinochoroidal atrophy on OCT with diffuse alterations reaching the peripapillary area on FAF. On FA, it was difficult to analyze the choroidal silence sign in patients with advanced stages of the disease. A hyperfluorescent window defect pattern was also found in patients with white-yellow flecks and did not correspond exactly to them, or to the areas of peripheral autofluorescent lesions. ICGA showed hypocyanescent areas seen at intermediate and late phases with multiple cyanescent points adjacent to them. On ICGA, hypocyanescent areas were more extensive than lesions observed on FAF. CONCLUSIONS: Multimodal imaging is helpful for the diagnosis of early stages of STGD disease and to better understand its pathophysiology. FAF and mostly SD-OCT have supplanted FA in the early, especially subclinical, stages. Over all, ICGA shows more extensive damage, making this tool useful for better understanding STGD and suggesting possible direct damage to the choriocapillaris associated with RPE lesions. In advanced stages, only DNA testing can confirm the diagnosis of STGD.

[Optical coherence tomography and fundus autofluorescence in Best macular dystrophy]. / Aspects tomographiques et en autofluorescence du fond d'œil dans la maladie de Best.

Best vitelliform macular dystrophy is the second most frequent hereditary maculopathy, with bilateral involvement and juvenile onset. It is clinically characterized by bilateral deposits of lipofuscin-like autofluorescent material in the subretinal space, with a typical phenotypic manifestation taking the form of a vitelliform macular lesion evolving gradually into more advanced stages. The purpose of our study was to describe fundus autofluorescence patterns and OCT findings in three patients (6 eyes) with several stages of Best vitelliform macular dystrophy. Optical coherence tomography (OCT) has become the first imaging technique to order when confronted with a hereditary maculopathy suggesting Best disease. Fundus autofluorescence combined with OCT allow for better diagnosis and management, which are necessary for any genetic analysis.

Effect of Risk Alleles in CFH, C3, and VEGFA on the Response to Intravitreal Bevacizumab in Tunisian Patients with Neovascular Age-related Macular Degeneration.

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.

[Genotype-phenotype correlation in ten Tunisian families with non-syndromic retinitis pigmentosa]. / Corrélations phénotype-génotype de la rétinopathie pigmentaire non syndromique : à propos de dix familles tunisiennes.

PURPOSE: To evaluate the clinical phenotype of ten Tunisian families with non-syndromic retinitis pigmentosa (RP), to characterize genes and mutations causing these conditions, and to elaborate phenotype-genotype correlations. METHODS: Descriptive clinical genetic study of 114 individuals, of whom 27 are affected by non-syndromic RP. Ophthalmic examination and various visual tests were performed. DNA was analyzed using single nucleotide polymorphism, microsatellite genotyping and direct sequencing to determine the genes and mutations involved. RESULTS: We identified seven mutated genes: RPE65, RDH12, USHER 2A, PDE6a, PDE6b, CRB1, and NR2E3. Analysis of phenotype-genotype correlation indicated that some genes were associated with specific phenotypes. In RPE65 mutations, we found early onset dystrophy, nystagmus, keratoconus, white dot deposits in earlier stages and clumped pigment in later stages. The RDH12-associated phenotype (juvenile RP) showed severe and early-onset dystrophy, diffuse spicule pigmentation, macular edema and thickening, and tomographic re-organization of retinal layers. The CRB1 mutation was characterized by preserved para-arteriolar retinal pigment epithelium and no hemeralopia. CONCLUSION: RP is clinically and genetically heterogeneous. The two ultimate goals of research are to provide efficient clinical diagnostic of affected gene by phenotype-genotype correlation and to design novel treatment regimens. Our goal is to create a specific chip for our population, and then future research will focus on the identification of the remaining causal genes, the elucidation of the molecular mechanisms of disease in the retina and the development of gene therapy approaches.

[Microbiological profile of endophthalmitis in a referral centre in Tunisia]. / Profil microbiologique des endophtalmies aiguës dans un centre de référence en Tunisie.

PURPOSE: To investigate the microbiological profile of acute postoperative endophthalmitis in a referral center in Tunisia and to assess the antibiotic sensitivity of the organisms. PATIENTS AND METHODS: This is a retrospective study over a period of eleven years, conducted on patients hospitalized with acute infectious postoperative endophthalmitis. Cultures were performed on aqueous (93%) and vitreous specimens (68%) obtained at presentation. Each sample underwent direct examination, culture and antibiotic susceptibilities. RESULTS: The number of acute postoperative endophthalmitis cases identified during the study period was 308. Organisms were found in 43% of samples (endophthalmitis was bacterial in 39.5%, fungal in 0.9% and polymicrobial in 2.6%). Cultures grew primarily Staphylococcus epidermidis in 31.4% of cases, Streptococcus pneumoniae in 22.7% of cases and Staphylococcus aureus in 12.7% of cases. Gram-positive cocci are more sensitive to vancomycin and Gram-negative bacilli are more susceptible to ofloxacin and ciprofloxacin. CONCLUSION: In our study, microbiological samples were positive in 43% and coagulase-negative Gram-positive cocci are the most common organisms. However, antibiotic resistance has been increasing over the years.