نتایج جستجو برای: congenital retinal macrovessels

تعداد نتایج: 199422  

Journal: :International Journal of Molecular Sciences 2021

Congenital fibrosis of the extraocular muscles (CFEOM) is a congenital cranial dysinnervation disorder caused by developmental abnormalities affecting nerves/nuclei innervating muscles. Autosomal dominant CFEOM arises from heterozygous missense mutations KIF21A or TUBB3. Although spatiotemporal expression studies have shown and TUBB3 in developing retinal ganglion cells, it unclear whether exte...

Journal: :Molecular therapy : the journal of the American Society of Gene Therapy 2004
Nadine S Dejneka Enrico M Surace Tomas S Aleman Artur V Cideciyan Arkady Lyubarsky Andrey Savchenko T Michael Redmond Waixing Tang Zhangyong Wei Tonia S Rex Ernest Glover Albert M Maguire Edward N Pugh Samuel G Jacobson Jean Bennett

The congenital retinal blindness known as Leber congenital amaurosis (LCA) can be caused by mutations in the RPE65 gene. RPE65 plays a critical role in the visual cycle that produces the photosensitive pigment rhodopsin. Recent evidence from human studies of LCA indicates that earlier rather than later intervention may be more likely to restore vision. We determined the impact of in utero deliv...

Journal: :Pharmacological reports : PR 2007
Anna Wiktorowska-Owczarek Magdalena Namiecinska Aneta Balcerczyk Jerzy Z Nowak

Adrenaline is a highly effective stimulator of cyclic AMP (cAMP) production in microvascular endothelial cells (ECs)--HMEC-1, showing only a moderate activity in macrovascular ECs--HUVEC. In both EC preparations, adrenaline acts via beta-type receptors. Selective stimulation of adenosine A(2)-type receptors resulted in comparable increases in cAMP formation in ECs lining micro- and macrovessels...

پایان نامه :دانشگاه آزاد اسلامی واحد علوم پزشکی تهران - دانشکده پزشکی 1390

هدف: در این مطالعه به بررسی الکترورتینوگرام در افراد مبتلا به retinal hemorrhage در کلینیک قدس طی بهمن 88 الی بهمن 89 پرداختیم. روش مطالعه: این مطالعه به صورت یک بررسی مشاهده ای (observational) توصیفی - تحلیلی (descriptive-analytical) مقطعی (cross-sectional) انجام شده است. حجم نمونه مورد بررسی در این مطالعه شامل دو گروه 25 نفری بود که یک گروه مبتلا به retinal hemorrhage بودند؛ ولی یک گروه نه ت...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2000
J P Van Hooser T S Aleman Y G He A V Cideciyan V Kuksa S J Pittler E M Stone S G Jacobson K Palczewski

Mutations in the retinal pigment epithelium gene encoding RPE65 are a cause of the incurable early-onset recessive human retinal degenerations known as Leber congenital amaurosis. Rpe65-deficient mice, a model of Leber congenital amaurosis, have no rod photopigment and severely impaired rod physiology. We analyzed retinoid flow in this model and then intervened by using oral 9-cis-retinal, atte...

Journal: :British Journal of Ophthalmology 1980

Journal: :British Journal of Ophthalmology 1937

Journal: :The British journal of ophthalmology 1976
P E Cleary Z Gregor A C Bird

The overlying retinal blood vessels were abnormal in five cases of congenital hypertrophy of the retinal pigment epithelium. This illustrated the well-recognized association between outer retinal degeneration and obliteration of the overlying retinal vasculature. The proposed pathophysiological mechanisms, however, seem inadequate to explain completely the morphological changes of the retinal b...

Frans P.M. Cremers, Han G. Brunner, Mahin Yahyaei, Mohammad Ghofrani, Mohammad Keramatipour, Morteza Movasat, Muhammad Imran Khan,

Background: Inherited retinal diseases (IRDs) are a group of genetic disorders with high degrees of clinical, genetic and allelic heterogeneity. IRDs generally show progressive retinal cell death resulting in gradual vision loss. IRDs constitute a broad spectrum of disorders including retinitis pigmentosa and Leber congenital amaurosis. In this study, we performed genotyping studies to identify...

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