نتایج جستجو برای: congenital retinal macrovessels

تعداد نتایج: 199422  

Journal: :Medicine Science | International Medical Journal 2017

Journal: : 2023

Preliminary data show that the incidence of eye damage in COVID-19 reaches 32%, with a diverse range clinical manifestations. Both anterior segment (conjunctivitis, keratoconjunctivitis) and posterior (retinal vascular thrombosis, neuritis, neuroretinitis) can be affected. The infection children is diagnosed much less frequently than adults, so ophthalmic manifestations have hardly ever been st...

Journal: :American journal of ophthalmology 2012
Pooja Godara Robert F Cooper Panagiotis I Sergouniotis Melissa A Diederichs Megan R Streb Mohamed A Genead J Jason McAnany Andrew R Webster Anthony T Moore Adam M Dubis Maureen Neitz Alfredo Dubra Edwin M Stone Gerald A Fishman Dennis P Han Michel Michaelides Joseph Carroll

PURPOSE To examine retinal structure and changes in photoreceptor intensity after dark adaptation in patients with complete congenital stationary night blindness and Oguchi disease. DESIGN Prospective, observational case series. METHODS We recruited 3 patients with complete congenital stationary night blindness caused by mutations in GRM6, 2 brothers with Oguchi disease caused by mutations ...

Journal: :Journal of medical genetics 2003
I Perrault S Hanein S Gerber F Barbet J-L Dufier A Munnich J-M Rozet J Kaplan

Originally described by Theodore Leber in 1869, Leber congenital amaurosis (LCA, MIM 204000) is the most early and severe form of all hereditary retinal dystrophies, responsible for congenital blindness. The diagnosis is usually made at birth or during the first months of life in an infant with total blindness or greatly impaired vision, normal fundus, and unrecordable electroretinogram (ERG). ...

Journal: :Critical reviews in eukaryotic gene expression 2015
Qiyu Bo Shan Ma Qian Han Fei E Wang Xiaorong Li Yan Zhang

Autophagy, a highly conserved self-degradation process that occurs under both physiological and pathological conditions, provides the raw material and energy for cell regeneration under normal circumstances. Dysregulated autophagy under diseased conditions may cause protein accumulation, organelle dysfunction, and even cell death. Recent studies have shown that autophagy regulates the structura...

Journal: :Acta medica Okayama 2016
Hideyo Ohuchi Kaori Taniguchi Satoru Miyaishi Hitomi Kono Hirofumi Fujita Tetsuya Bando Chiharu Fuchizawa Yuko Ohtani Osamu Ohtani

Human congenital anomalies provide information that contributes to the understanding of developmental mechanisms. Here we report bilateral optic nerve aplasia (ONA) with microphthalmia in the autopsy of the cadaver of a 70-year-old Japanese female. The gross anatomical inspection of the brain showed a cotton thread-like cord in the presumed location of the optic nerve tract or chiasm. Histologi...

Journal: :Human mutation 2012
Kinga Bujakowska Isabelle Audo Saddek Mohand-Saïd Marie-Elise Lancelot Aline Antonio Aurore Germain Thierry Léveillard Mélanie Letexier Jean-Paul Saraiva Christine Lonjou Wassila Carpentier José-Alain Sahel Shomi S Bhattacharya Christina Zeitz

Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from leber congenital amaurosis (LCA) to rod-cone dystrophy, also called retinitis pigmentosa (RP). Moreover, retinal dystrophies resulting from CRB1 mutations may be accompanied by specific fundus features: preservation of the para-arteriolar retinal pigment epithelium (PPRPE) and retinal ...

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