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

When medical genetic syndromes are influenced by allelic hierarchies, mutant alleles have
distinct effects on clinical phenotypes. Genotype–phenotype correlations for Usher …

Hearing loss is the most frequent sensory disorder, with an incidence of 1: 1500 live
newborns. In more than 50% of patients, it is associated with a genetic cause, while in up to …

Hearing impairment (HI) is a sensory disorder with a prevalence of 0.0055 live births in
South Africa. DNA samples from a South African family presenting with progressive …

Background Peroxisome biogenesis disorders (PBD) affect multiple organ systems. It is
characterized by neurological dysfunction, hypotonia, ocular anomalies, craniofacial …

Background Syndromic genetic disorders affecting vision can also cause hearing loss, and
Usher syndrome is by far the most common etiology. However, many other conditions can …

Purpose To elicit associations between vision difficulties and physical or psychosocial
challenges in children in the United States. Methods Children aged 2–17 years old from the …

Introduction Rapid advancements in Next Generation Sequencing (NGS) and bioinformatics
tools have allowed physicians to obtain genetic testing results in a more rapid, cost-effective …

Purpose This article presents a review of the main causes of inherited dual sensory
impairment (DSI) with an emphasis on the multidisciplinary approach. Methods A narrative …

Hearing impairment (HI) is a sensory disorder resulting in the partial or complete disability to
perceive sound in the better-hearing ear. It is defined as the inability to hear better than …