Retinitis Pigmentosa and Progressive Hearing Loss

1983 ◽  
Vol 48 (3) ◽  
pp. 308-314 ◽  
Author(s):  
Adrienne Karp ◽  
Frances Santore
Keyword(s):  
Hearing Loss ◽  
Retinitis Pigmentosa ◽  
Hearing Impairment ◽  
Case Histories ◽  
Progressive Hearing Loss ◽  
Pathologic Condition ◽  
Number Of Patients ◽  
Prelingual Deafness ◽  
Usher’S Syndrome

Much material has been written about the deaf-blind patient diagnosed as having Usher's syndrome, a pathologic condition involving hearing impairment and retinitis pigmentosa. Contrary to the accepted pattern of prelingual deafness in such cases, however, there are a number of patients who report a progressive, postlingual hearing loss associated with retinitis pigmentosa. These patients may suffer from a variation of classical Usher's syndrome. An attempt is made to verify this statement through presentation of case histories and audiologic findings. In addition, diagnostic and rehabilitative techniques employed in assisting patients with these dual impairments are offered.

Hearing Loss Associated with Retinitis Pigmentosa

1985 ◽  
Vol 79 (9) ◽  
pp. 404-405 ◽  
Author(s):  
Adrienne Karp
Keyword(s):  
Hearing Loss ◽  
Retinitis Pigmentosa ◽  
Progressive Hearing Loss ◽  
Rehabilitation Programs ◽  
Usher’S Syndrome

Clients with retinitis pigmentosa and a mild, moderate, or progressive hearing loss may be unrecognized and unserved by our diagnostic and rehabilitation programs. They are often treated separately for their visual and hearing dysfunctions, with no dialogue between managing agencies. The purpose of this article is to offer professionals a description of this particular variation of Usher's syndrome, and appropriate guidelines for its identification.

Progressive Hearing Loss in Usher's Syndrome

1989 ◽  
Vol 98 (11) ◽  
pp. 863-866 ◽  
Author(s):  
Seppo Karjalainen ◽  
Leena Pakarinen ◽  
Helena Kääriäinen ◽  
Markku Teräsvirta ◽  
Eero Vartiainen
Keyword(s):  
Hearing Loss ◽  
Hearing Impairment ◽  
Auditory Threshold ◽  
Speech Discrimination ◽  
Threshold Values ◽  
Progressive Hearing Loss ◽  
Usher’S Syndrome

In 18 patients with Usher's syndrome, progressive hearing loss was verified audiologically in eight cases. Despite poor auditory threshold values and low speech discrimination scores, there was only one patient who could not communicate with speech. The possibility of hearing impairment being mainly progressive in Usher's syndrome is discussed.

Considerations in Diagnosing Usher's Syndrome: RP and Hearing Loss

1982 ◽  
Vol 76 (7) ◽  
pp. 258-261 ◽  
Author(s):  
Mccay Vernon ◽  
Joann A. Boughman ◽  
Linda Annala
Keyword(s):  
Hearing Loss ◽  
Retinitis Pigmentosa ◽  
Hearing Impairment ◽  
Clinical Problems ◽  
Usher’S Syndrome

The association of hearing loss and retinitis pigmentosa has been generally recognized as Usher's Syndrome, although variations in the syndrome have not been clearly delineated. The diagnosis of a progressive visual disease in a person with severe hearing impairment has devastating implications for the individual's future. This article reviews findings of this syndrome and suggests strategies for dealing with some of the clinical problems displayed by Ushers Syndrome patients.

scholarly journals Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome

2019 ◽  
pp. 112067211987939
Author(s):  
Fabiana D’Esposito ◽  
Viviana Randazzo ◽  
Gilda Cennamo ◽  
Nicola Centore ◽  
Paolo Enrico Maltese ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Retinitis Pigmentosa ◽  
Sensorineural Hearing Loss ◽  
Hearing Impairment ◽  
Usher Syndrome ◽  
Age At Onset ◽  
Vestibular Dysfunction ◽  
Sensorineural Hearing ◽  
Type I ◽  
Missense Variation

Purpose: Usher syndrome (USH) is an autosomal recessive disorder characterized by congenital sensorineural hearing impairment and retinitis pigmentosa. Classification distinguishes three clinical types of which type I (USH1) is the most severe, with vestibular dysfunction as an added feature. To date, 15 genes and 3 loci have been identified with the USH1G gene being an uncommon cause of USH. We describe an atypical USH1G-related phenotype caused by a novel homozygous missense variation in a patient with profound hearing impairment and relatively mild retinitis pigmentosa, but no vestibular dysfunction. Methods: A 26-year-old female patient with profound congenital sensorineural hearing loss, nyctalopia and retinitis pigmentosa was studied. Audiometric, vestibular and ophthalmologic examination was performed. A panel of 13 genes was tested by next-generation sequencing (NGS). Results: While the hearing loss was confirmed to be profound, the vestibular function resulted normal. Although typical retinitis pigmentosa was present, the age at onset was unusually late for USH1 syndrome. A novel homozygous missense variation (c.1187T>A, p.Leu396Gln) in the USH1G gene has been identified as causing the disease in our patient. Conclusions: Genetic and phenotypic heterogeneity are very common in both isolated and syndromic retinal dystrophies and sensorineural hearing loss. Our findings widen the spectrum of USH allelic disorders and strength the concept that variants in genes that are classically known as underlying one specific clinical USH subtype might result in unexpected phenotypes.

Demographic Characteristics and Impairments of Louisiana Students with Usher's Syndrome

1987 ◽  
Vol 81 (3) ◽  
pp. 106-109
Author(s):  
S.C. Brown
Keyword(s):  
Hearing Loss ◽  
Retinitis Pigmentosa ◽  
Visual Impairment ◽  
Demographic Characteristics ◽  
Genetic Condition ◽  
Profound Hearing Loss ◽  
Usher’S Syndrome

Usher's syndrome is a genetic condition that is characterized by hearing loss and progressive blindness from retinitis pigmentosa. This article reports on a study of the impairments and demographic characteristics of 60 Louisiana students with Usher's syndrome that were analyzed to identify their interrelationships. The research found that although a substantial majority of the students had a manifested visual impairment and profound hearing loss, some of the students had less-than-profound hearing loss and no manifested visual impairment—a finding that corroborated the findings of previous studies. Moreover, the severity of these two impairments seems to be interrelated.

Spatial and statistical analysis of hearing impairment data of Chelyabinsk region residents

2021 ◽  
Vol 20 (3) ◽  
pp. 39-50
Author(s):  
A. A. Korneenkov ◽  
◽  
S. V. Ryazantsev ◽  
S. V. Levin ◽  
A. V. Khramov ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Statistical Analysis ◽  
Spatial Analysis ◽  
Sensorineural Hearing Loss ◽  
Hearing Impairment ◽  
Sensorineural Hearing ◽  
Point Pattern ◽  
Hearing Impairments ◽  
Number Of Patients ◽  
Chelyabinsk Region

The aim of the study is a spatial and statistical analysis of hearing loss of various types (conductive, sensorineural, mixed) and deafness in the adult population of the Chelyabinsk region, assessment of its dynamics and the impact of environmental stress in the place of residence. The study materials were data from the regional audiological center of the Chelyabinsk regional clinical hospital for the period from 2016–2020. Epidemiological issues of the spread of diseases were studied using the methods of spatial analysis, in the R software environment. The main tasks of spatial analysis were to visualize a point pattern from the geographical coordinates of the patient’s places of residence, assess the properties of the spatial process that generates this point pattern, test the hypothesis about the spatial randomness of this process and the influence of the ecological situation on it. It was found that more than half of all primary visits were patients with bilateral sensorineural hearing loss. The number of patients who applied for the year during the observation period fluctuates within the average. Of all hearing impairments, the highest values of relative incidence are characteristic of sensorineural hearing loss, which has a direct relationship with age. The intensity of detection in patients with hearing impairment and deafness is directly related to the size of the living population. The existing division into zones with different ecological situations does not have a statistically significant (p <0.05) effect on the ratio of the number of patients with hearing impairments to the population.

scholarly journals Stable and Progressive Hearing Loss in Type 2A Usher's Syndrome

1996 ◽  
Vol 105 (12) ◽  
pp. 962-967 ◽  
Author(s):  
Annelies van Aarem ◽  
Alfred J. L. G. Pinckers ◽  
William J. Kimberling ◽  
Patrick L. M. Huygen ◽  
Elisabeth M. Bleeker-Wagemakers ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Pure Tone ◽  
Regression Coefficient ◽  
Significant Heterogeneity ◽  
Progressive Hearing Loss ◽  
Chromosome 1Q ◽  
Pure Tone Average ◽  
Significant Regression ◽  
Usher’S Syndrome

Audiograms were traced or additionally performed on 23 Usher's syndrome patients in 10 Dutch multi-affected families, all linked to chromosome 1q (USH2A locus). Serial audiograms, available in 13 patients, were used for a regression analysis of binaural pure tone average on age (follow-up, 9 to 32 years) to test for “significant progression,” ie, a significant regression coefficient, here called the “annual threshold increase” (ATI, expressed in decibels per year). A significant ATI (>1 dB/y) was observed in 3 patients. Analysis of variance of ATI demonstrated significant heterogeneity; hearing loss was either stable or progressive. This implies a significant clinical heterogeneity. A similar analysis performed on our progressive USH2A cases and “type III” cases previously reported by others (ATI of 1 to 5 dB/y), some of which were recently linked to chromosome 3q (USH3 locus), failed to show any significant heterogeneity in the progression of hearing loss.

Progressive Hearing Impairment in Children with Congenital Cytomegalovirus Infection

1979 ◽  
Vol 44 (2) ◽  
pp. 220-229 ◽  
Author(s):  
Arthur J. Dahle ◽  
Faye P. McCollister ◽  
Sergio Stagno ◽  
David W. Reynolds ◽  
Holly E. Hoffman
Keyword(s):  
Hearing Loss ◽  
Hearing Impairment ◽  
Cytomegalovirus Infection ◽  
Sensorineural Hearing ◽  
Hearing Impairments ◽  
Congenital Cytomegalovirus Infection ◽  
Progressive Hearing Loss ◽  
Congenital Cytomegalovirus

Audiological assessment of 86 children with congenital cytomegalovirus infection revealed progressive hearing loss in four of 12 subjects with sensorineural hearing impairments. Case descriptions are presented documenting the progression of the hearing loss. In view of the findings, children with congenital cytomegalovirus should be monitored closely to insure detection of possible delayed or progressive hearing impairment and delivery of appropriate habilitative services.

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