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2.
Rev Neurol (Paris) ; 2024 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-38458836

RESUMO

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.

8.
J Fr Ophtalmol ; 44(2): 209-217, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33423815

RESUMO

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.


Assuntos
Estrias Angioides , Neovascularização de Coroide , Estrias Angioides/complicações , Estrias Angioides/diagnóstico , Corioide , Neovascularização de Coroide/diagnóstico por imagem , Angiofluoresceinografia , Humanos , Tomografia de Coerência Óptica
14.
J Fr Ophtalmol ; 40(8): 666-675, 2017 Oct.
Artigo em Francês | MEDLINE | ID: mdl-28919188

RESUMO

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.


Assuntos
Técnicas de Diagnóstico Oftalmológico , Degeneração Macular/congênito , Imagem Multimodal/métodos , Adolescente , Adulto , Criança , Progressão da Doença , Família , Feminino , Genes Recessivos , Humanos , Degeneração Macular/diagnóstico , Degeneração Macular/genética , Degeneração Macular/patologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Índice de Gravidade de Doença , Doença de Stargardt , Adulto Jovem
15.
J Fr Ophtalmol ; 39(3): 277-86, 2016 Mar.
Artigo em Francês | MEDLINE | ID: mdl-26868535

RESUMO

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.


Assuntos
Estudos de Associação Genética , Retinose Pigmentar/genética , Adolescente , Adulto , Criança , Estudos de Coortes , Análise Mutacional de DNA , Família , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Polimorfismo de Nucleotídeo Único , Tunísia , Adulto Jovem
16.
J Fr Ophtalmol ; 36(8): e145-9, 2013 Oct.
Artigo em Francês | MEDLINE | ID: mdl-23706607

RESUMO

INTRODUCTION: The purpose of our work is to demonstrate the role of optical coherence tomography and ocular ultrasound in the diagnosis of the dome-shaped macula in high myopia. OBSERVATION: We report the case of a patient with high myopia who presented with a decrease in visual acuity and metamorphopsia in the left eye. She underwent visual acuity measurement, biomicroscopic examination and measurement of axial length. B-mode ultrasound and optical coherence tomography showed a projection of the macula in the convexity of the myopic staphyloma confirming the diagnosis of dome-shaped macula. DISCUSSION AND CONCLUSION: Dome-shaped macula is a recently discovered entity, which may be responsible for a decrease in visual acuity in patients with high myopic posterior staphyloma. Ultrasound and optical coherence tomography are very helpful in making the diagnosis.


Assuntos
Miopia/complicações , Miopia/diagnóstico , Doenças Retinianas/complicações , Doenças Retinianas/diagnóstico , Tomografia de Coerência Óptica/métodos , Ultrassonografia , Feminino , Angiofluoresceinografia , Humanos , Macula Lutea/patologia , Pessoa de Meia-Idade , Miopia/patologia , Tamanho do Órgão
17.
J Fr Ophtalmol ; 36(6): e101-4, 2013 Jun.
Artigo em Francês | MEDLINE | ID: mdl-23623769

RESUMO

INTRODUCTION: Pituitary adenoma is a common benign tumor representing 8 to 10% of intracranial mass lesions. The compressive optic neuropathy associated with a pituitary adenoma can be clinically indistinguishable from glaucomatous optic neuropathy. CASE REPORT: A 56-year-old man with no significant past medical history had noticed a rapid decrease in visual acuity for 6 months. Funduscopic examination revealed glaucoma-like bilateral, asymmetric optic cupping. Brain MRI examination revealed a pituitary tumor compressing the optic chiasm. CONCLUSION: The diagnosis of a compressive optic neuropathy associated with a pituitary adenoma can be difficult, since it often simulates chronic glaucoma. However, several features should alert the clinician to the possibility of a compressive optic neuropathy and prompt neuroimaging, in order to obtain earlier diagnosis and treatment.


Assuntos
Adenoma/complicações , Síndromes de Compressão Nervosa/etiologia , Doenças do Nervo Óptico/etiologia , Neoplasias Hipofisárias/complicações , Adenoma/diagnóstico , Adenoma/patologia , Adenoma/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Síndromes de Compressão Nervosa/complicações , Síndromes de Compressão Nervosa/diagnóstico , Síndromes de Compressão Nervosa/cirurgia , Doenças do Nervo Óptico/diagnóstico , Doenças do Nervo Óptico/cirurgia , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/patologia , Neoplasias Hipofisárias/cirurgia , Carga Tumoral
18.
J Fr Ophtalmol ; 36(1): 62-5, 2013 Jan.
Artigo em Francês | MEDLINE | ID: mdl-22938673

RESUMO

PURPOSE: To study the effect of cataract surgery by phacoemulsification and intraocular lens implantation on the progression of diabetic retinopathy (DR) using the nonoperated fellow eye as a control, by a retrospective comparative study. PATIENTS AND METHODS: We studied 46 diabetic patients who underwent monocular cataract surgery by phacoemulsification with implantation of an intraocular lens within the capsular bag, with the nonoperated fellow eye used as a control. In all cases, the fellow eye exhibited only a very mild cataract, allowing for visualization of the fundus. Preoperative and 1, 3, 6 and 12 months postoperative ophthalmic examination and fundus photographs, supplemented if necessary by retinal fluorescein angiography, were performed to assess DR using the Alfediam classification. Patients were followed for at least 1 year. RESULTS: Among the 46 patients, preoperative DR was absent in 40 patients, and six patients had bilateral, symmetric non-proliferate diabetic retinopathy (NPDR): mild in four patients, moderate in one patient and moderately severe in another patient. Thirty-five eyes (76%) had postoperative best corrected visual acuity of 8/10 or better. Progression of DR occurred at about 23.9% (11/46) in the operated eyes and 19.6% (9/46) in the nonoperated eyes. As compared by the MacNémar test, there was no significant difference between operated and nonoperated eyes (P=0.68). CONCLUSION: This study demonstrates that cataract surgery by phacoemulsification does not represent an apparent risk factor for progression of DR.


Assuntos
Catarata/complicações , Diabetes Mellitus Tipo 2/patologia , Retinopatia Diabética/complicações , Retinopatia Diabética/patologia , Facoemulsificação/efeitos adversos , Idoso , Idoso de 80 Anos ou mais , Progressão da Doença , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
19.
Arch Pediatr ; 18(8): 870-3, 2011 Aug.
Artigo em Francês | MEDLINE | ID: mdl-21665443

RESUMO

Congenital rubella is a rare and serious disease including auditory neurological, cardiac, urinary, and ocular abnormalities. The eye complaints are often congenital cataract, congenital glaucoma, microphthalmia, and oculomotor disorders. We report the case of a 6-year-old girl presenting with a unilateral congenital cataract associated with congenital rubella. She was referred for complaints of high myopia in her right eye. She had a family history of cardiac and urogenital malformations, and presented deafness at birth. The ophthalmologic examination showed a microcornea and a unilateral dense congenital cataract in the right eye. B-scan ophthalmic ultrasound revealed a posterior microphthalmos. The anterior segment examination of the left eye was normal. Funduscopy revealed a salt-and-pepper appearance. Laboratory tests revealed a positive serology, confirming the congenital rubella. Given her complaints of loss of visual acuity in the right eye, the patient was operated on with a phacoaspiration implant in the capsular bag. The postoperative course was uneventful. The prevention of congenital rubella is based on routine vaccination of children. The association of cataract, congenital heart defects, and deafness must be systematically investigated as it may be more serious in association with systemic manifestations.


Assuntos
Catarata/congênito , Síndrome da Rubéola Congênita/complicações , Criança , Feminino , Humanos
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