Cone-Rod Dystrophy Caused by a Novel Homozygous RPE65 Mutation in Leber Congenital Amaurosis
Graph Chatbot
Chat with Graph Search
Ask any question about EPFL courses, lectures, exercises, research, news, etc. or try the example questions below.
DISCLAIMER: The Graph Chatbot is not programmed to provide explicit or categorical answers to your questions. Rather, it transforms your questions into API requests that are distributed across the various IT services officially administered by EPFL. Its purpose is solely to collect and recommend relevant references to content that you can explore to help you answer your questions.
Retinal dystrophies (RD) are a rare genetic disorder with high genetic heterogeneity. This study aimed at identifying disease-causing variants in fifteen consanguineous Tunisian families. Full ophthalmic examination was performed. Index patients were subje ...
PurposeTo determine a relationship between the retinal vessel saturation alterations and the residual retinal function measured by means of full-field electroretinography (full-field ERG), electrooculogram (EOG) and multifocal electroretinography (mfERG) i ...
Background: Leber congenital amaurosis is an early-onset childhood severe retinal dystrophy, of significant genetic heterogeneity. RPGRIP1 is ubiquitously expressed, but mutations in RPGRIP1 lead to a retina-restricted phenotype, such as Leber congenital a ...
IntroductionRadiosurgery (RS) and fractionated radiotherapy (FRT) are part of the therapeutic armamentarium for the management of cavernous sinus meningiomas. We propose a systematic review of the local tumor control and clinical outcomes after monofractio ...
Purpose:Currently, there is no known cure for Retinitis pigmentosa (RP). Even if some treatments can slow down the progression of the disease, none of them can effectively stop retinal degeneration. We exploited the possibility of an early intervention in ...
Currently, there is no known cure for retinitis pigmentosa (RP). Even if some treatments can slow down the progression of the disease, none of them can effectively stop retinal degeneration. This study exploits the possibility of an early intervention in p ...
The obvious symptoms of schizophrenia are hallucinations, delusions, and cognitive dysfunctions. However, schizophrenia patients have many other abnormalities, including visual impairments. Visual paradigms are versatile tools of schizophrenia research bec ...
The degeneration of photoreceptors in the retina is one of the major causes of adult blindness in humans. Unfortunately, no effective clinical treatments exist for the majority of retinal degenerative disorders. Here we report on the fabrication and functi ...
Purpose:In the past decade, retinal prostheses emerged as promising technology to restore a primitive, although clinically useful, form of vision. However, fighting blindness with retinal prostheses require challenges not yet achieved. From a clinical pers ...
In the context of MOOCs, “With-me-ness” refers to the extent to which the learner succeeds in following the teacher, specifically in terms of looking at the area in the video that the teacher is explaining. In our previous works, we employed eye-tracking m ...
