Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated
➤ Gửi thông báo lỗi ⚠️ Báo cáo tài liệu vi phạmNội dung chi tiết: Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated
Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated
Yale UniversityEliScholar - A Digital Platform for Scholarly Publishing at YaleYale Medicine Thesis Digital LibrarySchool of Medicine43466Multimodal I Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated Imaging And Asymmetry of Disease Progression In Rhodopsin-Associated Autosomal Dominant Retinitis PigmentosaLawrence ChanFollow this and additional works at: https://elischolar.library.yale.edu/ymtdlỜ Part of the Medicine and Health Sciences CommonsRecommended CitationChan, Lawrence, ’Multimodal Ima Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated ging And Asymmetry Of Disease Progression In Rhodopsin-Associated Autosomal Dominant Retinitis Pigmentosa" (2019). Yale Medicine Thesis Digital LibrarLuận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated
y. 3480.https://elischolar.library.yale.edu/ymtdl/3480This Open Access Thesis is brought to you for free and open access by the School of Medicine at Yale UniversityEliScholar - A Digital Platform for Scholarly Publishing at YaleYale Medicine Thesis Digital LibrarySchool of Medicine43466Multimodal I Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated horized administrator of EliScholar - A Digital Platform for Scholarly Publishing at Yale. For more information, please contact elischoiar@yaie edu.Multimodal Imaging and Asymmetry of Disease Progression in Rhodopsin-associated Autosomal Dominant Retinitis PigmentosaA Thesis Submitted to the Yale Un Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated iversity School of Medicinein Partial Fulfillment of the Requirements for the Degree of Doctor of MedicinebyLawrence Chan2019AbstractRetinitis pigmentLuận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated
osa (RP) is a group of genetically and clinically heterogeneous inherited retinal degenerative diseases with no known cure to date. The recent gene thYale UniversityEliScholar - A Digital Platform for Scholarly Publishing at YaleYale Medicine Thesis Digital LibrarySchool of Medicine43466Multimodal I Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated tement for other potential gene therapies on the horizon. Upcoming clinical trials will be targeting patients with specific mutations, and measurements of disease progression will be needed for each genetic subtype of RP in order to determine whether treatments are successful. In this retrospective Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated cohort study, we examined 27 RP patients with confirmed autosomal dominant mutations in the rhodopsin gene by monitoring rates of progression as measuLuận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated
red structurally with ellipsoid zone (EZ) line width on spectral domain optical coherence tomography (SD-OCT), horizontal and vertical hyperautofluoreYale UniversityEliScholar - A Digital Platform for Scholarly Publishing at YaleYale Medicine Thesis Digital LibrarySchool of Medicine43466Multimodal I Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated graphy (ERG). Each structural parameter was measured twice by the author four weeks apart The mean rates of progression were -158 5 pm per year (-8 4%) for EZ line widths. -122.7 pm per year (-3.5%) for horizontal diameters, and -108.3 pm per year (-3.9%) for vertical diameters. High test-retest rel Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated iability was observed for the parameters (EZ line intraclass coefficient [ICC] = 0.9989, horizontal diameter ICC = 0.9889. vertical diameter ICC = 0.9Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated
771). The three parameters were also correlated 'With each other (r = 0.9325 for EZ line and horizontal diameter: r = 0.9081 for EZ line and vertical Yale UniversityEliScholar - A Digital Platform for Scholarly Publishing at YaleYale Medicine Thesis Digital LibrarySchool of Medicine43466Multimodal I Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated sin mutation class (I. Ila. lib. Ill) and morphology of the hyperautofluorescent ring (typical vs. atypical). No significant differences in rates of structural progression were observed by rhodopsin mutation class or by ring morphology. Finally, higher rates of asymmetry of progression between the l Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated eft and right eyes were detected for EZ line width (23% of subjects), horizontal diameter (17%), and vertical diameter (25%), as compared to studies oLuận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated
n other forms of RPAcknowledgmentsI would like to thank my mentors and thesis advisors Dr. Stephen Tsang and Dr. Ron Adelman for their mentorship and Yale UniversityEliScholar - A Digital Platform for Scholarly Publishing at YaleYale Medicine Thesis Digital LibrarySchool of Medicine43466Multimodal I Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated sistance, including Dr. Ronaldo Carvalho for his help with planning the experimental design and Jimmy Duong for his much-needed statistical wizardry and patience with my incompetence. Furthermore. I also thank Dr. Chmg-Hwa Sung from Weill Cornell Medicine for her expertise in biochemical characteriz Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated ation of rhodopsin mutations. I W'ould like to express my gratitude to Dr. Nmam Kombo for her efforts in helping me with the revision process. I alsoLuận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated
want to show my deepest appreciation to the Yale Department of Ophthalmology and Visual Science, especially to Deana Ralston for her incredible guidanYale UniversityEliScholar - A Digital Platform for Scholarly Publishing at YaleYale Medicine Thesis Digital LibrarySchool of Medicine43466Multimodal I Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated Finally, I want to thank my fiancée and life partner Yue Meng for herunconditional love and guidance at every step of my life these past seven years.Table of ContentsIntroduction............................................................1Statement of Purpose........................................ Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated ...........16Methods................................................................17Results.........................................................Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated
.......25Discussion.............................................................39References..........................................................Yale UniversityEliScholar - A Digital Platform for Scholarly Publishing at YaleYale Medicine Thesis Digital LibrarySchool of Medicine43466Multimodal I Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated ized by progressive photoreceptor death and irreversible vision loss (1). Typically, the initial loss of photoreceptors primarily involves the rods, thereby diminishing peripheral and night vision, followed by worsening tunnel vision and eventual loss of central vision mediated by cone photoreceptor Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated death (1). Ophthalmoscopic hallmarks of the disease include retinal arteriolar attenuation, bone-spicule peripheral pigment deposits, and waxy pallorLuận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated
of the optic disc (2). The clinical presentation of retinitis pigmentosa is highly variable The seventy and pattern of vision loss may be mild or sevYale UniversityEliScholar - A Digital Platform for Scholarly Publishing at YaleYale Medicine Thesis Digital LibrarySchool of Medicine43466Multimodal I Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated c until mid-adulthood. Allelic heterogeneity, in which each gene locus may have different mutations that cause the same disease entity, contributes to the diverse genetic etiology of RP; for example, over 300 different RPGR mutations have been identified in families with X-linked RP (3). Even among Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated members of the same family, the same mutation may result in different phenotypic manifestations. RP is also a genetically heterogeneous disease, withLuận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated
over 50 genes that have been found to be associated with non-syndromic RP. Further complicating the heterogeneity of the disease is that different mutYale UniversityEliScholar - A Digital Platform for Scholarly Publishing at YaleYale Medicine Thesis Digital LibrarySchool of Medicine43466Multimodal I Luận văn thạc sĩ multimodal imaging and asymmetry of disease progression in rhodopsin associated nt (20-Yale UniversityEliScholar - A Digital Platform for Scholarly Publishing at YaleYale Medicine Thesis Digital LibrarySchool of Medicine43466Multimodal IGọi ngay
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