scholarly journals Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2

2012 ◽  
Vol 75 ◽  
pp. 60-70 ◽  
Author(s):  
Ana Fakin ◽  
Martina Jarc-Vidmar ◽  
Damjan Glavač ◽  
Crystel Bonnet ◽  
Christine Petit ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Function ◽  
Fundus Autofluorescence ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Optical Coherence ◽  
Usher Syndrome Type

scholarly journals Targeted Exome Sequencing Identified a Novel USH2A Mutation in a Chinese Usher Syndrome Family

2020 ◽  
Author(s):  
Dongjun Xing ◽  
Huaiyu Zhou ◽  
Rongguo Yu ◽  
Linni Wang ◽  
Liying Hu ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Genetic Analysis ◽  
Exome Sequencing ◽  
Novel Mutation ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Optical Coherence ◽  
Targeted Exome Sequencing ◽  
Usher Syndrome Type

Abstract Background To identify the gene mutation in a Chinese family with Usher syndrome type 2 and describe the clinical features. Methods A 23-year-old man complain of 10-year nyctalopia and a 3-year decline in visual acuity in both eyes accompanied by congenital dysaudia. To clarify the diagnosis, the clinical symptoms of the patient were observed and analysed in combination with comprehensive ophthalmologic examinations as well as genetic analysis(Targeted exome sequencing, TES). Results Typical clinical presentation of Usher syndrome on fundus features was found, which included a wax yellow-like disc, bone-spicule formations, and retinal vessel stenosis. Optical coherence tomography(OCT) and optical coherence tomography angiography (OCTA) showed loss of the ellipsoid zone and a reduction in paracaval vessel density in both eyes. Genetic analysis identified the presence of novel homozygote of c.8483_8486del (p.S2828fs) in USH2A, a gene responsible for Usher syndrome type 2 (OMIM:276901). This novel mutation in USH2A led to premature translation termination, resulting in the deletion of 19 fibronectin type 3 domains(FN3), which plays an important role in protein binding. Based on the clinical manifestations and genetic result, the patient was diagnosed with Usher syndrome type 2. Conclusions We found a novel mutation of c.8483_8486del in USH2A gene through TES techniques for 381 inherited retinal disease (IRD) related genes. The results of this study broaden the spectrum of mutations in Usher syndrome type 2 and suggest that the combination of TES molecular diagnosis and clinical information can help USH patients obtain a better diagnoses.

scholarly journals Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report

2020 ◽  
Author(s):  
Dongjun Xing ◽  
Huaiyu Zhou ◽  
Rongguo Yu ◽  
Linni Wang ◽  
Liying Hu ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Genetic Analysis ◽  
Exome Sequencing ◽  
Usher Syndrome ◽  
Chinese Family ◽  
Syndrome Type ◽  
Optical Coherence ◽  
Targeted Exome Sequencing ◽  
Usher Syndrome Type

Abstract Background: Usher syndrome is a disease with a heterogeneous phenotype and genotype. Our purpose was to identify the gene mutation in a Chinese family with Usher syndrome type 2 and describe the clinical features.Case presentation: A 23-year-old man complained of a 10-year duration of nyctalopia and a 3-year decline in visual acuity of both eyes accompanied by congenital dysaudia. To clarify the diagnosis, the clinical symptoms were observed and analysed in combination with comprehensive ophthalmologic examinations as well as genetic analysis (targeted exome sequencing, TES). A typical clinical presentation of Usher syndrome of the fundus was found, including a waxy yellow-like disc, bone-spicule formations and retinal vessel stenosis. Optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) showed loss of the ellipsoid zone and a reduction in paracaval vessel density in both eyes. Genetic analysis identified a novel homozygous c.8483_8486del (p.Ser2828*) mutation in USH2A. The mutation resulted in premature termination of translation and caused the deletion of 19 fibronectin type 3 domains (FN3), transmembrane (TM) region and PDZ-binding motif domain, which play an important role in protein binding. After combining the clinical manifestations and genetic results, the patient was diagnosed with Usher syndrome type 2.Conclusion: We found a novel c.8483_8486del mutation in the USH2A gene through TES techniques. The results broaden the spectrum of mutations in Usher syndrome type 2 and suggest that a combination of clinical information and molecular diagnosis via TES could help Usher syndrome patients obtain a better diagnosis.

scholarly journals Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report

2020 ◽  
Author(s):  
Dongjun Xing ◽  
Huaiyu Zhou ◽  
Rongguo Yu ◽  
Linni Wang ◽  
Liying Hu ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Genetic Analysis ◽  
Exome Sequencing ◽  
Usher Syndrome ◽  
Chinese Family ◽  
Syndrome Type ◽  
Optical Coherence ◽  
Targeted Exome Sequencing ◽  
Usher Syndrome Type

Abstract Abstract Background: Usher syndrome is a disease with a heterogeneous phenotype and genotype. Our purpose was to identify the gene mutation in a Chinese family with Usher syndrome type 2 and describe the clinical features. Case presentation: A 23-year-old man complained of a 10-year duration of nyctalopia and a 3-year decline in visual acuity of both eyes accompanied by congenital dysaudia. To clarify the diagnosis, the clinical symptoms were observed and analysed in combination with comprehensive ophthalmologic examinations as well as genetic analysis (targeted exome sequencing, TES). A typical clinical presentation of Usher syndrome of the fundus was found, including a waxy yellow-like disc, bone-spicule formations and retinal vessel stenosis. Optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) showed loss of the ellipsoid zone and a reduction in paracaval vessel density in both eyes. Genetic analysis identified a novel homozygous c.8483_8486del (p.Ser2828*) mutation in USH2A. The mutation resulted in premature termination of translation and caused the deletion of 19 fibronectin type 3 domains (FN3), transmembrane (TM) regions and PDZ-binding motif domains, which play an important role in protein binding. After combining the clinical manifestations and genetic results, the patient was diagnosed with Usher syndrome type 2. Conclusion: We found a novel c.8483_8486del mutation in the USH2A gene through TES techniques. The results broaden the spectrum of mutations in Usher syndrome type 2 and suggest that a combination of clinical information and molecular diagnosis via TES could help Usher syndrome patients obtain a better diagnosis.

scholarly journals Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Dongjun Xing ◽  
Huaiyu Zhou ◽  
Rongguo Yu ◽  
Linni Wang ◽  
Liying Hu ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Genetic Analysis ◽  
Exome Sequencing ◽  
Usher Syndrome ◽  
Chinese Family ◽  
Syndrome Type ◽  
Optical Coherence ◽  
Targeted Exome Sequencing ◽  
Usher Syndrome Type

Abstract Background Usher syndrome is a disease with a heterogeneous phenotype and genotype. Our purpose was to identify the gene mutation in a Chinese family with Usher syndrome type 2 and describe the clinical features. Case presentation A 23-year-old man complained of a 10-year duration of nyctalopia and a 3-year decline in visual acuity of both eyes accompanied by congenital dysaudia. To clarify the diagnosis, the clinical symptoms were observed and analysed in combination with comprehensive ophthalmologic examinations as well as genetic analysis (targeted exome sequencing, TES). A typical clinical presentation of Usher syndrome of the fundus was found, including a waxy yellow-like disc, bone-spicule formations and retinal vessel stenosis. Optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) showed loss of the ellipsoid zone and a reduction in paracaval vessel density in both eyes. Genetic analysis identified a novel homozygous c.8483_8486del (p.Ser2828*) mutation in USH2A. The mutation resulted in premature termination of translation and caused the deletion of 19 fibronectin type 3 domains (FN3), transmembrane (TM) region and PDZ-binding motif domain, which play an important role in protein binding. After combining the clinical manifestations and genetic results, the patient was diagnosed with Usher syndrome type 2. Conclusion We found a novel c.8483_8486del mutation in the USH2A gene through TES techniques. The results broaden the spectrum of mutations in Usher syndrome type 2 and suggest that a combination of clinical information and molecular diagnosis via TES could help Usher syndrome patients obtain a better diagnosis.

scholarly journals Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report

2020 ◽  
Author(s):  
Dongjun Xing ◽  
Huaiyu Zhou ◽  
Rongguo Yu ◽  
Linni Wang ◽  
Liying Hu ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Genetic Analysis ◽  
Exome Sequencing ◽  
Usher Syndrome ◽  
Chinese Family ◽  
Syndrome Type ◽  
Optical Coherence ◽  
Targeted Exome Sequencing ◽  
Usher Syndrome Type

Abstract Background: Usher syndrome is a disease with a heterogeneous phenotype and genotype. Our purpose was to identify the gene mutation in a Chinese family with Usher syndrome type 2 and describe the clinical features.Case presentation: A 23-year-old man complained of a 10-year duration of nyctalopia and a 3-year decline in visual acuity of both eyes accompanied by congenital dysaudia. To clarify the diagnosis, the clinical symptoms were observed and analysed in combination with comprehensive ophthalmologic examinations as well as genetic analysis (targeted exome sequencing, TES). A typical clinical presentation of Usher syndrome of the fundus was found, including a waxy yellow-like disc, bone-spicule formations and retinal vessel stenosis. Optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) showed loss of the ellipsoid zone and a reduction in paracaval vessel density in both eyes. Genetic analysis identified a novel homozygous c.8483_8486del (p.Ser2828*) mutation in USH2A. The mutation resulted in premature termination of translation and caused the deletion of 19 fibronectin type 3 domains (FN3), transmembrane (TM) regions and PDZ-binding motif domains, which play an important role in protein binding. After combining the clinical manifestations and genetic results, the patient was diagnosed with Usher syndrome type 2.Conclusions: We found a novel c.8483_8486del mutation in the USH2A gene through TES techniques. The results broaden the spectrum of mutations in Usher syndrome type 2 and suggest that a combination of clinical information and molecular diagnosis via TES could help Usher syndrome patients obtain a better diagnosis.

scholarly journals Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report

2020 ◽  
Author(s):  
Dongjun Xing ◽  
Huaiyu Zhou ◽  
Rongguo Yu ◽  
Linni Wang ◽  
Liying Hu ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Genetic Analysis ◽  
Exome Sequencing ◽  
Usher Syndrome ◽  
Chinese Family ◽  
Syndrome Type ◽  
Optical Coherence ◽  
Targeted Exome Sequencing ◽  
Usher Syndrome Type

Abstract Background: Usher syndrome is a king of phenotypic and genetic heterogeneous disease. Our purpose was to identify the gene mutation in a Chinese family with Usher syndrome type 2 and describe the clinical features.Case presentation: A 23-year-old man complained of 10-year nyctalopia and a 3-year decline in visual acuity of both eyes accompanied by congenital dysaudia. To clarify the diagnosis, the clinical symptoms were observed and analysed in combination with comprehensive ophthalmologic examinations as well as genetic analysis (Targeted exome sequencing, TES). Typical clinical presentation of Usher syndrome on fundus was found including a wax yellow-like disc, bone-spicule formations and retinal vessel stenosis. Optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) showed the loss of ellipsoid zone and the reduction in paracaval vessel density of both eyes. Genetic analysis identified a novel homozygote of c.8483_8486del (p.Ser2828*) in USH2A. The mutation of premature translation termination causes the deletion of 19 fibronectin type 3 domains(FN3), transmembrane region (TM) and PDZ-binding motif domain, which plays an important role in protein binding. Combining the clinical manifestation and genetic result, the patient was diagnosed with Usher syndrome type 2.Conclusions: We found a novel mutation of c.8483_8486del in USH2A gene through TES techniques. The result broaden the spectrum of mutations in Usher syndrome type 2 and suggest that the combination of clinical information and TES molecular diagnosis could help USH patients obtain a better diagnosis.

scholarly journals Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report

2020 ◽  
Author(s):  
Dongjun Xing ◽  
Huaiyu Zhou ◽  
Rongguo Yu ◽  
Linni Wang ◽  
Liying Hu ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Genetic Analysis ◽  
Exome Sequencing ◽  
Usher Syndrome ◽  
Chinese Family ◽  
Syndrome Type ◽  
Optical Coherence ◽  
Targeted Exome Sequencing ◽  
Usher Syndrome Type

Abstract Background: Usher syndrome is a disease with a heterogeneous phenotype and genotype. Our purpose was to identify the gene mutation in a Chinese family with Usher syndrome type 2 and describe the clinical features. Case presentation: A 23-year-old man complained of a 10-year duration of nyctalopia and a 3-year decline in visual acuity of both eyes accompanied by congenital dysaudia. To clarify the diagnosis, the clinical symptoms were observed and analysed in combination with comprehensive ophthalmologic examinations as well as genetic analysis (targeted exome sequencing, TES). A typical clinical presentation of Usher syndrome of the fundus was found, including a waxy yellow-like disc, bone-spicule formations and retinal vessel stenosis. Optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) showed loss of the ellipsoid zone and a reduction in paracaval vessel density in both eyes. Genetic analysis identified a novel homozygous c.8483_8486del (p.Ser2828*) mutation in USH2A. The mutation resulted in premature termination of translation and caused the deletion of 19 fibronectin type 3 domains (FN3), transmembrane (TM) regions and PDZ-binding motif domains, which play an important role in protein binding. After combining the clinical manifestations and genetic results, the patient was diagnosed with Usher syndrome type 2.Conclusions: We found a novel c.8483_8486del mutation in the USH2A gene through TES techniques. The results broaden the spectrum of mutations in Usher syndrome type 2 and suggest that a combination of clinical information and molecular diagnosis via TES could help Usher syndrome patients obtain a better diagnosis.

Correlation analysis of fundus autofluorescence, spectral domain optical coherence tomography, and visual function in patients with diabetic macular oedema treated with intravitreal ziv-aflibercept

2019 ◽  
Vol 29 (3) ◽  
pp. 271-277 ◽  
Author(s):  
Sergio E Hernandez-Da Mota ◽  
Enrique A Roig Melo-Granados ◽  
Jans Fromow-Guerra ◽  
Francisco Bejar-Cornejo ◽  
Roberto Gallego-Pinazo ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Regression Analysis ◽  
Correlation Analysis ◽  
Visual Function ◽  
Macular Oedema ◽  
Fundus Autofluorescence ◽  
Diabetic Macular Oedema ◽  
Optical Coherence ◽  
Average Thickness

Purpose: The aim of this study was to evaluate the correlations between fundus autofluorescence and morphologic parameters as well as visual function in patients with diabetic macular oedema treated with intravitreal ziv-aflibercept. Methods: A total of 34 eyes of 20 patients with untreated diabetic macular oedema received an intravitreal injection of ziv-aflibercept at baseline, and 1 and 2 months later. The baseline, 1-month, and two-month best corrected visual acuity determination, contrast sensitivity, spectral domain optical coherence tomography, mean central macular thickness, mean macular cube volume, mean macular cube average thickness, and fundus autofluorescence (decreased, normal, or increased; and single or multiple spots) were measured. Correlation analysis with a determination of Spearman’s rank correlation coefficient, regression analysis, agreement between investigators, and Friedman’s test were used for statistical analyses. Results: A direct correlation was observed between baseline fundus autofluorescence and macular cube average thickness at 1 month (r = 0.51, p = 0.020) and between fundus autofluorescence at 1 month and baseline macular cube average thickness (r = 0.50, p = 0.021). Regression analysis showed a coefficient of determination of 0.29 (p = 0.016) between baseline fundus autofluorescence and macular cube average thickness at 1 month. Conclusion: In patients with diabetic macular oedema, the pretreatment baseline degree of foveal fundus autofluorescence might be helpful in predicting macular cube average thickness in patients undergoing treatment with intravitreal ziv-aflibercept in the short term.

Usher syndrome type 1: Early detection of electroretinographic changes

2009 ◽  
Vol 13 (6) ◽  
pp. 505-507 ◽  
Author(s):  
Roberto Flores-Guevara ◽  
Francis Renault ◽  
Natalie Loundon ◽  
Sandrine Marlin ◽  
Béatrice Pelosse ◽  
...  
Keyword(s):  
Early Detection ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Usher Syndrome Type
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