PURPOSE: Normobaric hyperoxia (NBH) has been shown in animal models of experimental retinal detachment (RD) to effectively prevent photoreceptor degeneration. Furthermore, choroidal hyperpermeability has been implicated in the disease pathophysiology. In this study, we studied the effects of 3-hours of 40% FIO2 NBH on photoreceptor morphology and visual acuity in patients with vision loss associated with active central serous chorioretinopathy (CSCR). MATERIALS and METHODS: A total of 8 patients with active unilateral CSCR received at least one 3-hour NBH (40% FIO2) session. Best corrected visual acuity (BCVA) as well as thickness of the central macula, subretinal fluid (SRF), photoreceptor layer (PL), and outer nuclear layer (ONL) were assessed. RESULTS: In patients with unilateral acute CSCR, 3 hours of 40% FIO2 NBH showed a trend towards improved vision, but no statistical differences were obtained for BCVA, CMT, SRF, PL, or ONL. CONCLUSIONS: Administration of 3-hours of NBH did not induce any measurable anatomic changes in the retina nor any significant changes in visual acuity. These results challenge the hypothesis of choroidal hyperpermeability in CSCR and suggest that additional or alternative pathologies contribute to this disease. / 2022-11-29T00:00:00Z

Les maladies rétiniennes héréditaires représentent un groupe de pathologie hétérogène sur le plan phénotypique et génétique. Elles sont dues à une dysfonction ou une dégénérescence de la neurorétine ou de l’épithélium pigmentaire rétinien. Elles peuvent être présente de manière isolée ou être associée à des atteintes extraoculaires dans les formes syndromiques. Le travail de thèse porte sur l’identification moléculaire de gènes responsables de formes rares de pathologie rétinienne syndromique incluant les ciliopathies dont le syndrome de Bardet-Biedl, caractérisé notamment par une dégénérescence rétinienne constante, et les microcéphalies associées à une choriorétinopathie. Par une approche de séquençage exomique, nous avons pu identifier trois nouveaux gènes impliqués dans ces pathologies rétiniennes syndromiques et confirmer l’implication d’un gène dans le syndrome de Bardet-Biedl. L’analyse des phénotypes rétiniens d’une cohorte de patients présentant un syndrome de Bardet-Biedl a permis la description d’un phénotype atypique avec atteinte prédominante des cônes. / Inherited retinal diseases (IRDs) represent a clinically and genetically heterogeneous group of rare pathologies. These disorders result of a dysfunction or a degeneration of the photoreceptors or the retinal pigment epithelium. IRDs can be subdivided in isolated forms, and syndromic forms that involve non–ocular features. This work deals with the molecular identification of genes implicated in rare forms of syndromic retinal diseases, including the ciliopathies with the Bardet-Biedl syndrome (BBS), characterized by a constant retinal degeneration, and the microcephaly associated with chorioretinopathy.Using an exomic sequencing approach, we have identified three new genes involved in these rare syndromic retinal diseases and confirmed the implication of a gene in Bardet-Biedl syndrome. The analysis of the retinal phenotypes of a BBS patients’ cohort allowed the description of an atypical retinal phenotype with predominantly cone dysfunction.

京都大学 / 0048 / 新制・課程博士 / 博士(医学) / 甲第22344号 / 医博第4585号 / 新制||医||1042(附属図書館) / 京都大学大学院医学研究科医学専攻 / (主査)教授 藤渕 航, 教授 渡邊 直樹, 教授 玉木 敬二 / 学位規則第4条第1項該当 / Doctor of Medical Science / Kyoto University / DFAM

京都大学 / 0048 / 新制・課程博士 / 博士(医学) / 甲第20271号 / 医博第4230号 / 新制||医||1021(附属図書館) / 京都大学大学院医学研究科医学専攻 / (主査)教授 木村 剛, 教授 富樫 かおり, 教授 高橋 淳 / 学位規則第4条第1項該当 / Doctor of Medical Science / Kyoto University / DFAM

京都大学 / 新制・課程博士 / 博士(医学) / 甲第24494号 / 医博第4936号 / 新制||医||1063(附属図書館) / 京都大学大学院医学研究科医学専攻 / (主査)教授 村川 泰裕, 教授 小杉 眞司, 教授 松田 文彦 / 学位規則第4条第1項該当 / Doctor of Medical Science / Kyoto University / DFAM

Assessment of the efficacy of photodynamic therapy in patients with chronic central serous chorioretinopathy The presented postgraduate thesis deals with the issue of macular edema based on central serous chorioretinopathy (CSC) and the current possibilities of therapeutic solution of this disease. Although in most cases central serous chorioretinopathy does not belong to frequent and vision-threatening diseases, it can, especially its chronic form, lead to impaired vision. The aim of the theoretical part of this work is to characterize this chorioretinal disease and describe the basic principles of treatment. The work also describes the pathogenesis of CSC, the examination methods, the up-to-date accepted CSC classification and the therapeutic modalities of the treatment of the disease. The clinical part of this work is a prospective study of 52 patients (54 eyes), aged 30- 75, with chronic form of central serous chorioretinopathy treated at the Eye Clinic of the 1st Faculty of Medicine of Charles University and Military University Hospital Prague in the years 2012 to 2018. The aim of this prospective study is to evaluate the anatomical and functional results of the treatment of 54 eyes with chronic form of central serous chorioretinopathy using photodynamic therapy in a reduced (half) dosing...

京都大学 / 新制・課程博士 / 博士(医学) / 甲第23792号 / 医博第4838号 / 新制||医||1057(附属図書館) / 京都大学大学院医学研究科医学専攻 / (主査)教授 近藤 尚己, 教授 佐藤 俊哉, 教授 藤渕 航 / 学位規則第4条第1項該当 / Doctor of Medical Science / Kyoto University / DFAM

京都大学 / 新制・課程博士 / 博士(医学) / 甲第25159号 / 医博第5045号 / 京都大学大学院医学研究科医学専攻 / (主査)教授 中山 健夫, 教授 森田 智視, 教授 永井 洋士 / 学位規則第4条第1項該当 / Doctor of Medical Science / Kyoto University / DFAM