نتایج جستجو برای: congenital retinal macrovessels
تعداد نتایج: 199422 فیلتر نتایج به سال:
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...
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 ...
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). ...
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...
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...
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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