scholarly journals Usher syndrome Type I in an adult Nepalese male: a rare case report

2018 ◽  
Vol 9 (2) ◽  
pp. 203-205
Author(s):  
Sabin Sahu ◽  
Sanjay Kumar Singh
Keyword(s):  
Hearing Loss ◽  
Retinitis Pigmentosa ◽  
Genetic Disorder ◽  
Usher Syndrome ◽  
Type I ◽  
Syndrome Type ◽  
Profound Hearing Loss ◽  
Rare Case Report ◽  
Different Populations ◽  
Usher Syndrome Type

Usher syndrome, also known as retinitis pigmentosa-dysacusis syndrome, is an extremely rare genetic disorder, characterized by retinitis pigmentosa (RP) and congenital sensorineural hearing loss. It has been estimated to account for 3-6% of the congenitally deaf population, upto 8-33% of individuals with RP and half of all cases with combined deafness and blindness (Vernon M,1969; Boughman JA et al,1983). The prevalence of Usher syndrome have been reported to range from 3.5 to 6.2 per 100,000 in different populations (Vernon M,1969; Boughman JA et al,1983; Yan D et al, 2010).We report a case of Usher syndrome type I in an adult Nepalese male with typical congenital profound hearing loss, and night blindness secondary to retinitis pigmentosa.

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

USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa

2020 ◽  
pp. bjophthalmol-2019-315786 ◽  
Author(s):  
Tian Zhu ◽  
De-Fu Chen ◽  
Lei Wang ◽  
Shijing Wu ◽  
Xing Wei ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Retinitis Pigmentosa ◽  
Usher Syndrome ◽  
Chinese Patients ◽  
Syndrome Type ◽  
Type Ii ◽  
Phenotype Correlation ◽  
Clinical Visit ◽  
Younger Age ◽  
Usher Syndrome Type

AimsTo reveal the Usher syndrome type IIA (USH2A) gene variant profile in a large cohort of Chinese patients with non-syndromic retinitis pigmentosa (RP) or Usher syndrome type II (USH2) and to explore the genotype–phenotype correlation.MethodsTargeted exome capture plus next-generation sequencing confirmed that 284 patients from 260 unrelated Chinese families carried USH2A disease-associated variants. Both personal medical history and family histories were reviewed. Ocular examinations were performed and audiograms were recorded if hearing loss was suspected. The genotype–phenotype correlation was evaluated by statistical analyses.ResultsA total of 230 variants in the USH2A gene were identified, of which 90 (39.13%) were novel. The most common variants in the RP and USH2 probands were p.Cys934Trp and p.Tyr2854_2894del, respectively, and 26.42% and 63.64% of the alleles in the RP and USH2 groups were truncating, respectively. Patients harbouring biallelic truncating variants had a younger age at the initial clinical visit and symptom onset than patients with missense variants; furthermore, the patients with USH2 had a younger age at the initial clinical visit and nyctalopia onset compared with the patients with RP (p<0.001). For the patients with USH2, the age of nyctalopia onset was positively correlated with that of hearing loss (p<0.05, r=0.219). In addition, three pseudo-dominant pedigrees were identified carrying biallelic USH2A variants.ConclusionsThis study enrolled the largest cohort of Chinese patients with USH2A and identified the most prevalent USH2A variants in USH2 and RP. We found that the patients with USH2 had more truncating variants and experienced an earlier decline in visual function. The findings enhance the current knowledge of USH2A heterogeneity and provide valuable information for future therapies.

Usher Syndrome Type III Can Mimic other Types of Usher Syndrome

2003 ◽  
Vol 112 (6) ◽  
pp. 525-530 ◽  
Author(s):  
Ronald J. E. Pennings ◽  
August F. Deutman ◽  
Randall R. Fields ◽  
William J. Kimberling ◽  
Patrick L. M. Huygen ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Usher Syndrome ◽  
Vestibular Function ◽  
Hearing Impaired ◽  
The Other ◽  
Type I ◽  
Syndrome Type ◽  
Genetic Characteristics ◽  
Type Iii ◽  
Usher Syndrome Type

Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149–152delCAGG + insTGTCCAAT. One individual (IV: 1) is profoundly hearing impaired and has normal vestibular function and retinitis punctata albescens (RPA). The other individual is also profoundly hearing impaired, but has well-developed speech, vestibular areflexia, and retinitis pigmentosa sine pigmento (RPSP). These findings suggest that Usher syndrome type III can be clinically misdiagnosed as either Usher type I or II; that Usher syndrome patients who are profoundly hearing impaired and have normal vestibular function should be tested for USH3 mutations; and that RPA and RPSP can occur as fundoscopic manifestations of pigmentary retinopathy in Usher syndrome.

Psychosocial Implications of Usher Syndrome, Type I, throughout the Life Cycle

1995 ◽  
Vol 89 (3) ◽  
pp. 287-296 ◽  
Author(s):  
I.D. Miner
Keyword(s):  
Life Cycle ◽  
Retinitis Pigmentosa ◽  
Usher Syndrome ◽  
Type I ◽  
Syndrome Type ◽  
Clinical Vignettes ◽  
Psychosocial Implications ◽  
Usher Syndrome Type

Usher syndrome, Type I, requires multiple adaptations throughout the life cycle because each stage of life has tasks and losses associated with deafness and progressive retinitis pigmentosa. This article examines the issues raised at each stage, using clinical vignettes from persons who have this condition and their families.

Usher syndrome

2021 ◽  
pp. 495-497
Author(s):  
Shanees. E
Keyword(s):  
Hearing Loss ◽  
Early Diagnosis ◽  
Vision Loss ◽  
Treatment Success ◽  
Usher Syndrome ◽  
Autosomal Recessive Disorder ◽  
Type I ◽  
Profound Hearing Loss ◽  
Balance Problems ◽  
Usher Syndrome Type

Usher syndrome is a condition that affects both hearing and vision; sometimes it also affects balance. The major symptoms of Usher syndrome are deafness or hearing loss and an eye disease called retinitis pigmentosa (RP). Most children with Usher syndrome are born with moderate to profound hearing loss, depending on the type. Less commonly, hearing loss from Usher syndrome appears during adolescence or later.1 Usher syndrome affects approximately 4 to 17 per 100,000 people,2,3 and accounts for about 50 percent of all hereditary deaf- blindness cases.4 . Usher syndrome is inherited as an autosomal recessive disorder. Usher syndrome is caused by mutations in specific genes. So far, Usher syndrome has been associated with mutations in at least ten genes. There are three types of Usher syndrome, type I, type II and type III 1. Diagnosis of Usher syndrome involves pertinent questions regarding the person’s medical history and testing of hearing, balance, and vision. Early diagnosis is important, as it improves treatment success. Genetic testing may help in diagnosing Usher syndrome. Presently, there is no cure for Usher syndrome. Treatment involves managing hearing, vision, and balance problems. Early diagnosis helps tailor educational programs that consider the severity of hearing and vision loss and a child’s age and ability.1 Usher Syndrome Awareness Day is observed in the third Saturday of September. Usher Syndrome Awareness Day seeks to bring attention and raise awareness of the most common genetic cause of combined deafness and blindness.5

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa

2004 ◽  
Vol 79 (2) ◽  
pp. 167-173 ◽  
Author(s):  
Babak Jian Seyedahmadi ◽  
Carlo Rivolta ◽  
Julia A. Keene ◽  
Eliot L. Berson ◽  
Thaddeus P. Dryja
Keyword(s):  
Retinitis Pigmentosa ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Type Ii ◽  
Usher Syndrome Type

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.

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