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Retinal dystrophies are responsible for numerous cases of blindness, and there are no therapeutic possibilities today. Gene therapy is efficient in a dog model concerning dystrophy linked to a mutation of the rpe65 gene. If such a therapy is to be considered for humans, it is urgent to select, at a national level, patients suffering from dystrophy linked to a mutation of the rpe65 gene. The systematic correlation of phenotype/genotype is an anatomical-functional approach, but it also identifies patients who may be potentially included in a future gene therapy study. Indeed, identification of people with a mutation of rpe65 is still insufficient in France (compared to other European countries) because of a lack of systemic genotyping of retinal dystrophy.
Allocation: Non-Randomized, Control: Uncontrolled, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Diagnostic
realization of a family tree, refractometry, evaluation of the presence of a nystagmus, ocular behavior, test of baby vision, test of keenness, reading test, visual field, color vision, electroretinographical activity, biomicroscopical test, retinal imagi
CHU de Nantes
Nantes University Hospital
Published on BioPortfolio: 2014-08-27T03:40:40-0400
Involuntary oscillations of the eyes (nystagmus) impairs vision so that affected patients, who have neurological disorders such as Multiple Sclerosis (MS) , cannot read or watch TV. Two me...
The purpose of this study is to investigate the long-term safety, tolerability and efficacy of neramexane mesylate in the treatment of congenital idiopathic nystagmus (CIN). In addition, a...
The purpose of this study is to investigate the safety and efficacy of neramexane mesylate in the treatment of congenital idiopathic nystagmus (CIN) in comparison to placebo. In addition, ...
This study will examine the safety and effectiveness of a new surgical procedure to correct congenital nystagmus-a disorder of eye muscle-vision-brain coordination characterized by rapid t...
Mild to moderate facial acne is an extremely common disease of teenagers and young adults. This pilot study will investigate whether treatment with a gel containing tea tree oil reduces nu...
To report a case of two siblings affected by porphyria cutanea tarda (PCT) presenting with varying severity of ocular disease and evaluation of difference in the presence of risk factors.
Trigeminal nerve disorder is an important neurological sign that is often seen with multiple sclerosis (MS). We investigated eye movements in three MS patients with trigeminal disorder due to pontine ...
Seesaw nystagmus is characterized by cyclic eye movements with a conjugate torsional component and a dissociated vertical component. In the first half of the cycle, one eye elevates and intorts, where...
The middle cerebellar peduncle (MCP) is a major conduit for cortico-ponto-cerebellar fibers that convey information related to eye movements. This study aims to elucidate eye movement abnormalities th...
Pseudo-spontaneous nystagmus has been reported in patients with direction-changing positional nystagmus (DCPN). Recently, the concept of a "light cupula" has been introduced as a pathophysiology that ...
Essential oil extracted from Melaleuca alternifolia (tea tree). It is used as a topical antimicrobial due to the presence of terpineol.
Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.
The only family of the order SCANDENTIA, variously included in the order Insectivora or in the order Primates, and often in the order Microscelidea, consisting of five genera. They are TUPAIA, Ananthana (Indian tree shrew), Dendrogale (small smooth-tailed tree shrew), Urogale (Mindanao tree shrew), and Ptilocercus (pen-tailed tree shrew). The tree shrews inhabit the forest areas of eastern Asia from India and southwestern China to Borneo and the Philippines.
Involuntary rhythmical movements of the eyes in the normal person. These can be naturally occurring as in end-position (end-point, end-stage, or deviational) nystagmus or induced by the optokinetic drum (NYSTAGMUS, OPTOKINETIC), caloric test, or a rotating chair.
Ocular manifestations secondary to various NEOPLASMS in which antibodies to antigens of the primary tumor cross-react with ocular antigens. This autoimmune response often leads to visual loss and other ocular dysfunctions.
Gene therapy is the use of DNA as a pharmaceutical agent to treat disease. It derives its name from the idea that DNA can be used to supplement or alter genes within an individual's cells as a therapy to treat disease. The most common form of gene th...
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...