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Int J Pediatr Otorhinolaryngol 2022 Jun 15;157:111140. Epub 2022 Apr 15.

National Research Centre for Audiology and Hearing Rehabilitation, Moscow, 117513, Russia; Russian Medical Academy of Continuing Professional Education, Moscow, 125993, Russia. Electronic address:

Introduction: Nowadays, due to universal newborn hearing screening (UNHS) the number of children with mild-to-moderate hearing loss diagnosed in the first year of life has increased significantly. Aside from that, identification of the genetic cause improves the genetic counselling of the families and allows to reveal possible comorbidities which may need a special approach.

Objective: To present the characteristics of the early audiologic phenotype in hearing impaired patients with biallelic mutations in the USH2A gene based on systematic analysis of the audiological data. Read More

Hum Genet 2022 Apr 30;141(3-4):709-735. Epub 2022 Mar 30.

Institut Pasteur, Institut de l'Audition, Université Paris Cité, INSERM UMRS1120, Progressive Sensory Disorders, Pathophysiology and Therapy Unit, F-75012, Paris, France.

Usher syndrome (USH) is the most common cause of deaf-blindness in humans, with a prevalence of about 1/10,000 (~ 400,000 people worldwide). Cochlear implants are currently used to reduce the burden of hearing loss in severe-to-profoundly deaf patients, but many promising treatments including gene, cell, and drug therapies to restore the native function of the inner ear and retinal sensory cells are under investigation. The traditional clinical classification of Usher syndrome defines three major subtypes-USH1, 2 and 3-according to hearing loss severity and onset, the presence or absence of vestibular dysfunction, and age at onset of retinitis pigmentosa. Read More

Ophthalmic Genet 2022 Mar 28:1-6. Epub 2022 Mar 28.

Institute for Neurosciences of Montpellier, INSERM, University of Montpellier, Montpellier, France.

Background: The c.2299delG mutation is prevalent and accounts for 24.5% pathogenic variants, with promising prospects for customized gene therapy. Read More

Ophthalmic Genet 2022 Mar 23:1-8. Epub 2022 Mar 23.

Department of Ophthalmology, School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, Puerto Rico.

Background: Retinitis pigmentosa (RP) is a genetically heterogeneous group of diseases characterized by complete progressive vision loss; it has a prevalence of approximately one in 2500-7000. Patients with RP may have isolated findings, or the disorder can occur as part of a constellation of other abnormalities that, together, are known as syndromic RP. The aim of this study was to describe the results of a genetic analysis of a cohort of Puerto Ricans with a clinical diagnosis of RP. Read More

Invest Ophthalmol Vis Sci 2022 03;63(3):17

University Eye Hospital, Center for Ophthalmology, University of Tübingen, Tübingen, Germany.

Purpose: To measure visual fields using two-color dark-adapted chromatic perimetry in a subset of participants in the Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A), a study of USH2A-mediated syndromic (USH2) and autosomal recessive nonsyndromic retinitis pigmentosa, determine percentage retaining rod function, and explore relationships between dark-adapted visual fields (DAVF) and rod function from ERG and full-field stimulus thresholds (FST).

Methods: Full-field rod mean sensitivity, number of rod loci, maximum sensitivity, DAVF full-field hill of vision (DAVF VTOT), and 30° hill of vision (DAVF V30) were measured in one eye for DAVF ancillary study participants (n = 49). Loci where cyan relative to red sensitivity was more than 5 dB on dark-adapted chromatic perimetry were considered rod mediated. Read More