PURPOSE Accurate genotyping of individuals with inherited retinal diseases (IRD) is
essential for patient management and identifying suitable candidates for gene therapies …

Inherited retinal diseases (IRDs) are the leading cause of vision loss in the working-age
population. We performed a retrospective epidemiological study to determine the genetic …

Usher syndrome (USH) is the most common form of deaf-blindness, with an estimated
prevalence of 4.4 to 16.6 per 100,000 people worldwide. The most common form of USH is …

Importance Biallelic variants inCLN3lead to a spectrum of diseases, ranging from severe
neurodegeneration with retinal involvement (juvenile neuronal ceroid lipofuscinosis) to …

This retrospective study identifies patients with RP at the Inherited Retinal Disease Clinic at
the University of Minnesota (UMN)/M Health System who had genetic testing via next …

Purpose To determine the genetic background of sector retinitis pigmentosa (RP) natural
history to better inform patient counseling. Design Retrospective case series. Methods …

Inherited retinal dystrophies encompass a diverse group of disorders affecting the structure
and function of the retina, leading to progressive visual impairment and, in severe cases …

We conducted targeted next-generation sequencing (TGS) and/or whole exome sequencing
(WES) to assess the genetic profiles of clinically suspected retinitis pigmentosa (RP) in the …

Purpose. Retinitis pigmentosa (RP) shows great diversity between genotypes and
phenotypes, and it is important to identify the causative genes. This study aimed to analyze …

Our purpose was to elucidate the genotype and ophthalmological and audiological
phenotype in TUBB4B-associated inherited retinal dystrophy (IRD) and sensorineural …