Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation

2004 ◽  
Vol 137 (6) ◽  
pp. 1172
Author(s):  
A. Iannaccone ◽  
D.K. Breuer ◽  
X.F. Wang ◽  
S.F. Kuo ◽  
E.M. Normando ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Retinitis Pigmentosa ◽  
Recurrent Infections ◽  
Immunohistochemical Evidence

HEARING LOSS IN RETINITIS PIGMENTOSA

PEDIATRICS ◽  
1967 ◽  
Vol 40 (5) ◽  
pp. 875-880
Author(s):  
Richard L. Goode ◽  
F. Mark Rafaty ◽  
F. Blair Simmons
Keyword(s):  
Hearing Loss ◽  
Early Diagnosis ◽  
Retinitis Pigmentosa ◽  
Clinical Course ◽  
Family Members ◽  
Onset Age ◽  
Hearing Tests ◽  
Historical Information ◽  
Hearing Defect ◽  
Visual Abnormalities

The clinical course of hearing loss associated with retinitis pigmentosa is outlined in four brief case summaries. This incidence of hearing loss in retinitis pigmentosa is 10% and occurs several years before clinical visual abnormalities. A battery of audiometric tests all suggest that the hearing defect is within the cochlea and that it is not rapidly progressive. Onset age has not been established. The employment of more than routine hearing tests, testing of other family members, electroretinograms, and historical information about certain features of familial vision are useful in establishing early diagnosis.

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.

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.

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

2006 ◽  
Vol 121 (2) ◽  
pp. 203-211 ◽  
Author(s):  
Inga Ebermann ◽  
Hendrik P. N. Scholl ◽  
Peter Charbel Issa ◽  
Elvir Becirovic ◽  
Jürgen Lamprecht ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Retinitis Pigmentosa ◽  
Sensorineural Hearing Loss ◽  
Usher Syndrome ◽  
Sensorineural Hearing ◽  
Syndrome Type ◽  
Novel Gene ◽  
Usher Syndrome Type

A Variant Form of Hypobetalipo-proteinaemia Associated with Ataxia, Hearing Loss and Retinitis Pigmentosa

2008 ◽  
Vol 36 (11) ◽  
pp. 1015-1020 ◽  
Author(s):  
Muneaki Matsuo ◽  
Setsuko Nomura ◽  
Toshiro Hara ◽  
Makoto Kinoshita ◽  
Kyosuke Yamamoto ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Retinitis Pigmentosa ◽  
Variant Form

scholarly journals Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Omar Elghawy ◽  
Alice Y. Zhang ◽  
Ryan Duong ◽  
William G. Wilson ◽  
Eugene Y. Shildkrot
Keyword(s):  
Hearing Loss ◽  
Docosahexaenoic Acid ◽  
Retinitis Pigmentosa ◽  
Sensorineural Hearing Loss ◽  
Cholic Acid ◽  
Phytanic Acid ◽  
Sensorineural Hearing ◽  
Refsum Disease ◽  
Restricted Diet ◽  
Infantile Refsum Disease

Infantile Refsum disease is a rare peroxisomal biogenesis disorder characterized by impaired alpha-oxidation and accumulation of phytanic acid in the tissues. Patients often present with fundus changes resembling retinitis pigmentosa, developmental delay, sensorineural hearing loss, ataxia, and hepatomegaly. Traditionally, mainstay treatment for this condition has been a phytanic acid-restricted diet, although supplementation with either docosahexaenoic acid or cholic acid has rarely been described in the literature. We present a case of infantile Refsum disease in a child with retinitis pigmentosa-like ocular findings, sensorineural hearing loss, and self-resolving hepatic disease, who developed novel findings of macular edema refractory to carbonic anhydrase inhibitors. We describe management with a phytanic acid-restricted diet and combination docosahexaenoic acid, and cholic acid therapy, which helped to limit progression of her disease.

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.

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