< em > PRPS1 < /em > -associated retinopathy: a diagnostic odyssey
CONCLUSION: The constellation of asymmetric retinopathy and non-congenital hearing impairment should prompt the clinician to search for other diagnoses that may not be covered by an Usher syndrome next generation sequencing panel. Interpretation of genetic testing results should be correlated with a detailed clinical phenotype.PMID:38619019 | DOI:10.1080/13816810.2024.2321871 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 15, 2024 Category: Opthalmology Authors: Tariq A Alzahem Abdulwahab AlTheeb Rola Ba-Abbad Source Type: research
Optical coherence tomography (OCT) and OCT-angiography in syndromic versus non-syndromic < em > USH2A < /em > -associated retinopathy
CONCLUSIONS: Despite their younger age, patients with Usher syndrome type 2 displayed similar choroidal and microvascular changes compared to those with nsRP.PMID:38602021 | DOI:10.1177/11206721241247421 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - April 11, 2024 Category: Opthalmology Authors: Alessio Antropoli Alessandro Arrigo Carlo Caprara Lorenzo Bianco Stefano Mercuri Alessandro Berni Ilaria Passerini Sofia Gambarotta Andrea Sodi Francesco Bandello Vittoria Murro Maurizio Battaglia Parodi Source Type: research
Optical coherence tomography (OCT) and OCT-angiography in syndromic versus non-syndromic < em > USH2A < /em > -associated retinopathy
CONCLUSIONS: Despite their younger age, patients with Usher syndrome type 2 displayed similar choroidal and microvascular changes compared to those with nsRP.PMID:38602021 | DOI:10.1177/11206721241247421 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - April 11, 2024 Category: Opthalmology Authors: Alessio Antropoli Alessandro Arrigo Carlo Caprara Lorenzo Bianco Stefano Mercuri Alessandro Berni Ilaria Passerini Sofia Gambarotta Andrea Sodi Francesco Bandello Vittoria Murro Maurizio Battaglia Parodi Source Type: research
Optical coherence tomography (OCT) and OCT-angiography in syndromic versus non-syndromic < em > USH2A < /em > -associated retinopathy
CONCLUSIONS: Despite their younger age, patients with Usher syndrome type 2 displayed similar choroidal and microvascular changes compared to those with nsRP.PMID:38602021 | DOI:10.1177/11206721241247421 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - April 11, 2024 Category: Opthalmology Authors: Alessio Antropoli Alessandro Arrigo Carlo Caprara Lorenzo Bianco Stefano Mercuri Alessandro Berni Ilaria Passerini Sofia Gambarotta Andrea Sodi Francesco Bandello Vittoria Murro Maurizio Battaglia Parodi Source Type: research
Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis
Advancements in genetic testing have led to Usher syndrome now being diagnosed at a much earlier age than in the past, enabling the provision of early intervention and support to children and families. Despite... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 21, 2024 Category: Internal Medicine Authors: L. Johansen, F. O ’Hare, E. R. Shepard, L. N. Ayton, L. J. Pelenstov, L. S. Kearns and K. L. Galvin Tags: Research Source Type: research
Pathophysiology of human hearing loss associated with variants in myosins
Deleterious variants of more than one hundred genes are associated with hearing loss including MYO3A, MYO6, MYO7A and MYO15A and two conventional myosins MYH9 and MYH14. Variants of MYO7A also manifest as Usher syndrome associated with dysfunction of the retina and vestibule as well as hearing loss. While the functions of MYH9 and MYH14 in the inner ear are debated, MYO3A, MYO6, MYO7A and MYO15A are expressed in inner ear hair cells along with class-I myosin MYO1C and are essential for developing and maintaining functional stereocilia on the apical surface of hair cells. Stereocilia are large, cylindrical, actin-rich protr...
Source: Frontiers in Physiology - March 18, 2024 Category: Physiology Source Type: research
[PERSPECTIVES] Comparison of Worldwide Disease Prevalence and Genetic Prevalence of Inherited Retinal Diseases and Variant Interpretation Considerations
One of the considerations in planning the development of novel therapeutic modalities is disease prevalence that is usually defined by studying large national/regional populations. Such studies are rare and might suffer from inaccuracies and challenging clinical characterization in heterogeneous diseases, such as inherited retinal diseases (IRDs). Here we collected reported disease prevalence information on various IRDs in different populations. The most common IRD, retinitis pigmentosa, has an average disease prevalence of ~1:4500 individuals, Stargardt disease ~1:17,000, Usher syndrome ~1:25,000, Leber congenital amauros...
Source: Cold Spring Harbor perspectives in medicine - February 1, 2024 Category: Research Authors: Hanany, M., Shalom, S., Ben-Yosef, T., Sharon, D. Tags: Retinal Disorders: Genetic Approaches to Diagnosis and Treatment PERSPECTIVES Source Type: research
Carriers of autosomal recessive conditions: are they really 'unaffected?
Mendel’s Law of Dominance suggests that recessive disease expression requires the inheritance of two mutated alleles as the dominant, wildtype allele suppresses disease presentation leading to the expression of physiological normal phenotypes. However, there is existing evidence that challenges this school of thought. Here, we summarise existing literature evaluating metabolic and health impacts among carriers of autosomal recessive conditions, focusing on phenylketonuria (PKU), classical homocystinuria, galactosemia and Usher syndrome as examples. Our findings suggest that carriers, often described as ‘unaffec...
Source: Journal of Medical Genetics - December 21, 2023 Category: Genetics & Stem Cells Authors: Hames, A., Khan, S., Gilliland, C., Goldman, L., Lo, H. W., Magda, K., Keathley, J. Tags: Review Source Type: research
SA60 Key Challenges in Gene Therapy Development for Usher Syndrome: Insights from Machine-Assisted Rapid Scoping Review
Despite proven potential through empirical evidence, gene therapies for Usher syndrome (USH) are not approved yet. This scoping review aimed to systematically evaluate the challenges reported in the existing literature on USH gene therapy. (Source: Value in Health)
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: R. Bhat, B. Nallamothu, F. Shethia, V. Chhaya, K. Khambholja Source Type: research
Novel pathogenic WHRN variant causing hearing loss in a moroccan family
CONCLUSION: We used whole exome sequencing to find a homozygous WHRN gene variant in a Moroccan family. Numerous bioinformatics methods predict that this modification might result in a change in the WHRN protein's structure.PMID:37924449 | DOI:10.1007/s11033-023-08901-8 (Source: Molecular Biology Reports)
Source: Molecular Biology Reports - November 4, 2023 Category: Molecular Biology Authors: Imane AitRaise Ghita Amalou Salaheddine Redouane Hicham Charoute Khalid Snoussi Houria Abdelghaffar Crystel Bonnet Christine Petit Abdelhamid Barakat Source Type: research
Novel pathogenic WHRN variant causing hearing loss in a moroccan family
CONCLUSION: We used whole exome sequencing to find a homozygous WHRN gene variant in a Moroccan family. Numerous bioinformatics methods predict that this modification might result in a change in the WHRN protein's structure.PMID:37924449 | DOI:10.1007/s11033-023-08901-8 (Source: Mol Biol Cell)
Source: Mol Biol Cell - November 4, 2023 Category: Molecular Biology Authors: Imane AitRaise Ghita Amalou Salaheddine Redouane Hicham Charoute Khalid Snoussi Houria Abdelghaffar Crystel Bonnet Christine Petit Abdelhamid Barakat Source Type: research
Novel pathogenic WHRN variant causing hearing loss in a moroccan family
CONCLUSION: We used whole exome sequencing to find a homozygous WHRN gene variant in a Moroccan family. Numerous bioinformatics methods predict that this modification might result in a change in the WHRN protein's structure.PMID:37924449 | DOI:10.1007/s11033-023-08901-8 (Source: Molecular Biology Reports)
Source: Molecular Biology Reports - November 4, 2023 Category: Molecular Biology Authors: Imane AitRaise Ghita Amalou Salaheddine Redouane Hicham Charoute Khalid Snoussi Houria Abdelghaffar Crystel Bonnet Christine Petit Abdelhamid Barakat Source Type: research
Novel pathogenic WHRN variant causing hearing loss in a moroccan family
CONCLUSION: We used whole exome sequencing to find a homozygous WHRN gene variant in a Moroccan family. Numerous bioinformatics methods predict that this modification might result in a change in the WHRN protein's structure.PMID:37924449 | DOI:10.1007/s11033-023-08901-8 (Source: Mol Biol Cell)
Source: Mol Biol Cell - November 4, 2023 Category: Molecular Biology Authors: Imane AitRaise Ghita Amalou Salaheddine Redouane Hicham Charoute Khalid Snoussi Houria Abdelghaffar Crystel Bonnet Christine Petit Abdelhamid Barakat Source Type: research
Novel pathogenic WHRN variant causing hearing loss in a moroccan family
CONCLUSION: We used whole exome sequencing to find a homozygous WHRN gene variant in a Moroccan family. Numerous bioinformatics methods predict that this modification might result in a change in the WHRN protein's structure.PMID:37924449 | DOI:10.1007/s11033-023-08901-8 (Source: Molecular Biology Reports)
Source: Molecular Biology Reports - November 4, 2023 Category: Molecular Biology Authors: Imane AitRaise Ghita Amalou Salaheddine Redouane Hicham Charoute Khalid Snoussi Houria Abdelghaffar Crystel Bonnet Christine Petit Abdelhamid Barakat Source Type: research
