Advertisement

Topics

Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy

2014-08-27 03:40:40 | BioPortfolio

Summary

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.

Study Design

Allocation: Non-Randomized, Control: Uncontrolled, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Diagnostic

Conditions

Amaurosis

Intervention

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

Location

CHU de Nantes
Nantes
France
44093

Status

Recruiting

Source

Nantes University Hospital

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:40:40-0400

Clinical Trials [1064 Associated Clinical Trials listed on BioPortfolio]

Cross-Over Comparison of Gabapentin and Memantine as Treatment for Acquired Nystagmus

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...

Open-lable Extension Study on Safety and Efficacy of Neramexane to Treat Congenital and Acquired Nystagmus

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...

Efficacy and Safety Study of Neramexane to Treat Congenital and Acquired Nystagmus

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, ...

Eye Muscle Surgery to Treat Congenital Nystagmus

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...

Pilot Study to Evaluate Tea Tree Oil Gel for Facial Acne

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...

PubMed Articles [16523 Associated PubMed Articles listed on BioPortfolio]

Total Corneal Melt in Patient with Porphyria Cutanea Tarda in Presence of another Risk Factor.

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.

Upbeat nystagmus is a useful sign in the regional diagnosis of trigeminal nerve disorder with multiple sclerosis.

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 ...

Pendular Seesaw Nystagmus in a Patient With a Giant Pituitary Macroadenoma: Pathophysiology and the Role of the Accessory Optic System.

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...

Eye movement abnormalities in middle cerebellar peduncle strokes.

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 in patients with geotropic direction-changing positional nystagmus.

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 ...

Medical and Biotech [MESH] Definitions

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.

More From BioPortfolio on "Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy"

Advertisement
Quick Search
Advertisement
Advertisement

 

Relevant Topics

Gene Therapy
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
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...


Searches Linking to this Trial