Search results for " retinal diseases"
showing 3 items of 3 documents
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene
2022
Abstract Background Arthrogryposis multiplex congenita (AMC) is a group of clinically and etiologically heterogeneous conditions, characterized by prenatal onset contractures affecting two or more joints. Its incidence is about 1 in 3000 live births. AMC may be distinguished into amyoplasia, distal and syndromic arthrogryposis. Distal arthrogryposis (DA) predominantly affects hands and feet. It is currently divided into more than ten subtypes (DA1, DA2A/B, DA3–10), based on clinical manifestations, gene mutations and inheritance pattern. Among them, only a few patients with DA5 have been reported. It is associated to a gain-of-function pathogenic variant of the PIEZO2 gene, encoding for an …
Indocyanine green in congenital hypertrophy of the retinal pigment epithelium
2005
To report a case of congenital hypertrophy of the retinal pigment epithelium followed up for 7 years showing features not previously reported. A complete fundus examination including fluorescein angiography was performed at first examination and at follow-up. The area of congenital hypertrophy of the retinal pigment epithelium presented morphologic changes, showing enlargement of the lesion on one side associated with partial regression on another side. In addition, the indocyanine green angiography findings revealed that this test was more useful than fluorescein angiography to delineate the real boundaries of the lesion and disclosed hypofluorescent areas inside the main lesion that were …
Human Visual Perception and Retinal Diseases
2010
Retinal diseases are causing alterations of the visual perception leading sometimes to blindness. For this reason, early detection and diagnosis of retinal pathologies is very important. Using digital image processing techniques, retinal images may be analyzed quickly and computer-assisted diagnosis systems may be developed in order to help the ophthalmologists to make a diagnosis. In this paper we described shortly two computer-assisted systems for the detection of retinal landmarks (optic disc and vasculature) together with a brief introduction to the human visual system and to some alterations of the visual perception caused by retinal diseases.