THBS1 is a new autosomal recessive non-syndromic hearing impairment gene.

Background: Prelingual hearing impairment (HI) is genetically highly heterogenous. Early diagnosis and intervention are essential for psychosocial development. In this study we investigated a consanguineous family from Pakistan with autosomal recessive (AR) non-syndromic sensorineural HI (NSHI).

Clinical Characterization and Prognostic Risk Factors of Susac Syndrome: A Retrospective Multicenter Study.

Background And Objectives: Susac syndrome (SuS) is a rare disorder characterized by encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss, often accompanied by vertigo. Recent updates to diagnostic criteria and treatment guidelines have been made. This study examines clinical manifestations; disease activity; and risk factors of disability, dependency, and return to work in patients with SuS.

Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.

The AGBL5 gene encodes for the Cytoplasmic Carboxypeptidase 5 (CCP5), an α-tubulin deglutamylase that cleaves the γ-carboxyl-linked branching point of glutamylated tubulin. To date, pathogenic variants in AGBL5 have been associated only with isolated retinitis pigmentosa (RP). Hearing loss has not been reported in AGBL5-caused retinal disease.

Prevalence and Intriguing Clinical Profiles of Autoimmune Inner Ear Diseases in Sudden Sensorineural Hearing Loss.

Introduction: Sudden sensorineural hearing loss (SSNHL) is idiopathic in 70-90% of cases with 10-30% linked to vascular injuries, viral infections, or autoimmune inner ear disease (AIED). AIED contributes to less than 1% of all hearing losses, categorized into primary, affecting only the inner ear, and secondary, associated with systemic autoimmune diseases (SAID). This study examines the prevalence and features of AIED in SSNHL in a tertiary referral center.

Integrated physiotherapy approach for susac syndrome: A comprehensive case study.

Introduction: Susac's syndrome is a rare autoimmune disorder characterised by a triad of encephalopathy (brain dysfunction), branch retinal artery occlusion (loss of vision) and sensorineural hearing loss. This study presents the case of a patient undergoing intensive physiotherapy intervention following an injury, focusing on assessments such as volume and range of motion measurements, manual muscle tests, and pain intensity evaluations using various scales.

Case Description: The patient, aged 17, initially presented with severe limitations in mobility, diagnosed with Susac syndrome.

Hearing impairment and vestibular function in patients with a pathogenic splice variant in the LHX3 gene.

Background: LHX3 is a gene encoding a LIM-homeodomain transcription factor important for the fetal development of several organs, such as the pituitary gland, spinal motor neurons and the inner ear. Pathogenic and likely pathogenic variants in the LHX3 gene are infrequent and result in a rare syndrome known as combined pituitary hormone deficiency-3, CPHD3.

Methods: We have studied hearing and vestibular functions in a group of eight individuals, aged 8-36 years, all of whom were homozygous for a specific variant in the LHX3 gene at chromosome 9q34.

Identifying DNA Variants in a Turkish Cohort with Inner Ear Anomalies.

To determine the genetic causes of sensorineural hearing loss (SNHL) associated with inner ear anomalies, 11 unrelated Turkish individuals diagnosed with SNHL and an inner ear anomaly using temporal bone computed tomography and inner ear magnetic resonance imaging underwent exome or whole genome sequencing to identify underlying genetic defects. None of the individuals was diagnosed with a recognized syndrome. Four of the 11 probands were homozygous for variants, , , , and .

EAST (Epilepsy, Ataxia, Sensorineural Hearing Loss, and Renal Tubulopathy) Syndrome: A Rare Association Between Brain, Ear, and Kidney.

EAST syndrome - Epilepsy, Ataxia, Sensorineural hearing loss, and renal Tubulopathy - is an autosomal recessive disorder affecting the potassium channel in the brain, inner ear, and basolateral membrane of the distal nephron of the kidney. The mutation in the gene is responsible for defective potassium transport in those locations, resulting in seizures, hearing loss, and hypokalemia. Imaging findings of this disease are typical, such as cerebellar hypoplasia and signal changes in bilateral dentate nuclei, midbrain, pons, and medulla, with variable restricted diffusion due to intramyelinic edema.

Congenital deafness and vestibular disorders: a systematic literature review.

Introduction: Congenital deafness is a pathological entity that represents an economical and social burden, affecting up to 0.2% of newborns in Europe. Sensorineural hearing loss (SHL) is caused by a variety of factors, including congenital abnormalities, perinatal infectious diseases and genetic syndromes.

A Case of Bilateral Retinal Vasculitis in Atypical Cogan Syndrome.

Cogan syndrome (CS) is a rare chronic inflammatory disease characterized by ocular and inner ear inflammation. Well-known ocular manifestations include non-syphilitic interstitial keratitis (IK); however, some cases are not associated with IK. Inner ear symptoms include sensorineural hearing loss, rotatory vertigo, and tinnitus, which can become irreversible without timely treatment.

CRISPR/Cas9-mediated exon skipping to restore premature translation termination in a DFNB4 mouse model.

SLC26A4 encodes pendrin, a crucial anion exchanger essential for maintaining hearing function. Mutations in SLC26A4, including the prevalent c.919-2 A > G splice-site mutation among East Asian individuals, can disrupt inner ear electrolyte balance, leading to syndromic and non-syndromic hearing loss, such as Pendred syndrome and DFNB4.

Otolith function in Usher type II syndrome.

Background: Usher's syndrome type II (USH2) is a rare genetic disorder encompassing hearing loss, vision impairment, and apparent intact vestibular function. Recent research suggests a potential involvement of the otolith vestibular receptors in USH2.

Aims/objectives: Evaluate otolith dynamic function in USH2.