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About 673 results

ALLMedicine™ Usher Syndrome Center

Research & Reviews  260 results

Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First...
https://doi.org/10.1159/000523840
Cytogenetic and Genome Research; Reis CS, Quental S et. al.

May 18th, 2022 - Next-generation sequencing (NGS) technologies revolutionized the molecular diagnosis of sensorineural hearing loss (SNHL) and are now a standard of care. In this study, 71 Portuguese probands with hereditary SNHL were assessed by whole-exome seque...

Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4D...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9055553
Investigative Ophthalmology & Visual Science; Smirnov VM, Nassisi M et. al.

Apr 29th, 2022 - Biallelic variants in CLRN1 are responsible for Usher syndrome 3A and non-syndromic rod-cone dystrophy (RCD). Retinal findings in Usher syndrome 3A have not been well defined. We report the detailed phenotypic description of RCD associated with CL...

Characterizing Rate of Progression in USHer Syndrome (CRUSH) Study
https://clinicaltrials.gov/ct2/show/NCT04820244

Apr 29th, 2022 - Mutations in USH2A give rise to two phenotypes: Usher syndrome type 2a (USH2A) and nonsyndromic RP (USH2A associated nsRP). Usher syndrome is the most common form of congenital deafblindness. Patients with Usher syndrome are hearing impaired or pr...

Study of SAR421869 in Participants With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B
https://clinicaltrials.gov/ct2/show/NCT01505062

Apr 28th, 2022 - Following screening procedures, the gene transfer agent were injected once only under the retina by an opthalmic surgeon under anesthesia. Participants then had regular follow-up visits where general health examinations, blood tests and ophthalmic...

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Clinicaltrials.gov  6 results

Characterizing Rate of Progression in USHer Syndrome (CRUSH) Study
https://clinicaltrials.gov/ct2/show/NCT04820244

Apr 29th, 2022 - Mutations in USH2A give rise to two phenotypes: Usher syndrome type 2a (USH2A) and nonsyndromic RP (USH2A associated nsRP). Usher syndrome is the most common form of congenital deafblindness. Patients with Usher syndrome are hearing impaired or pr...

Study of SAR421869 in Participants With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B
https://clinicaltrials.gov/ct2/show/NCT01505062

Apr 28th, 2022 - Following screening procedures, the gene transfer agent were injected once only under the retina by an opthalmic surgeon under anesthesia. Participants then had regular follow-up visits where general health examinations, blood tests and ophthalmic...

Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F
https://clinicaltrials.gov/ct2/show/NCT04765345

Jan 13th, 2022 - This natural history study of patients with PCDH15 disease-causing variants will accelerate the development of outcome measures for clinical trials. Sensitive, reliable outcome measures of retinal degeneration will greatly facilitate development o...

Molecular Genetics of Retinal Degenerations
https://clinicaltrials.gov/ct2/show/NCT00231010

Apr 5th, 2018 - Objective: This project, Molecular Genetics of Retinal Degenerations will study the inheritance of genetic retinal degenerations, both Mendelian and complex, in families of many nationalities and ethnic backgrounds in order to identify the genes t...

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Patient Education  3 results

Genetic Disorders: What Are They, Types,
https://my.clevelandclinic.org/health/diseases/21751-genetic-disorders

Aug 20th, 2021 - Overview What are genetic disorders? Genetic disorders occur when a mutation (a harmful change to a gene, also known as a pathogenic variant) affects your genes or when you have the wrong amount of genetic material. Genes are made of DNA (deoxyrib...

Pemphigus: Types, Causes, Symptoms, Dia
https://my.clevelandclinic.org/health/diseases/21130-pemphigus

Jul 8th, 2019 - Overview What is pemphigus? Pemphigus is a group of skin disorders that cause blisters or pus-filled bumps. Lesions usually develop on the skin, but they can also form in the mucous membranes (soft linings of the eyes, nose, mouth, throat, and gen...

Usher Syndrome
https://www.hopkinsmedicine.org/health/conditions-and-diseases/usher-syndrome

Usher syndrome is a disorder that is passed down through families (inherited). A syndrome is a group of symptoms that happen together. Usher syndrome involves both hearing loss and vision loss. The hearing loss may be mild to complete.

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