Usher Syndrome: New Insights into Classification, Genotype–Phenotype Correlation, and Management DOI Open Access
Fabiana D’Esposito, Giuseppe Gagliano, Caterina Gagliano

et al.

Genes, Journal Year: 2025, Volume and Issue: 16(3), P. 332 - 332

Published: March 12, 2025

Background: Usher syndrome (USH), the most common cause of combined deaf-blindness, is a genetically and phenotypically heterogeneous disorder characterized by congenital hearing impairment progressive vision loss due to rod-cone dystrophy. Although original classification in three subtypes (USH I, USH II, III) still valid, recent findings have changed widened perspectives its classification, genotype–phenotype correlations, management strategies: Objective: This study aims provide new insights into syndrome, explore genotype-phenotype review current emerging strategies. Methods: A comprehensive literature has been conducted, incorporating data from clinical studies, genetic databases, patient registries. Results: Recent studies led identification several novel pathogenic variants genes, leading refined subclassifications syndrome. Interactions between different genes being part network this ciliopathy investigated mechanisms unveiled. Significant correlations were found certain genotypes presentation both auditory visual phenotypes. For instance, MYO7A gene (USH1B) generally associated with more severe earlier onset retinal dystrophy, if compared other genes-related forms. Other such as USH1G, traditionally considered causing specific subtype, can display phenotypic heterogeneity some patients. Conclusions: provides better understanding that considers regarding causes features. Precise lead counselling, precise characterization natural history condition, personalized effective approach. progress made research gene-specific therapies appear promising for improving quality life individuals affected

Language: Английский

Usher Syndrome: New Insights into Classification, Genotype–Phenotype Correlation, and Management DOI Open Access
Fabiana D’Esposito, Giuseppe Gagliano, Caterina Gagliano

et al.

Genes, Journal Year: 2025, Volume and Issue: 16(3), P. 332 - 332

Published: March 12, 2025

Background: Usher syndrome (USH), the most common cause of combined deaf-blindness, is a genetically and phenotypically heterogeneous disorder characterized by congenital hearing impairment progressive vision loss due to rod-cone dystrophy. Although original classification in three subtypes (USH I, USH II, III) still valid, recent findings have changed widened perspectives its classification, genotype–phenotype correlations, management strategies: Objective: This study aims provide new insights into syndrome, explore genotype-phenotype review current emerging strategies. Methods: A comprehensive literature has been conducted, incorporating data from clinical studies, genetic databases, patient registries. Results: Recent studies led identification several novel pathogenic variants genes, leading refined subclassifications syndrome. Interactions between different genes being part network this ciliopathy investigated mechanisms unveiled. Significant correlations were found certain genotypes presentation both auditory visual phenotypes. For instance, MYO7A gene (USH1B) generally associated with more severe earlier onset retinal dystrophy, if compared other genes-related forms. Other such as USH1G, traditionally considered causing specific subtype, can display phenotypic heterogeneity some patients. Conclusions: provides better understanding that considers regarding causes features. Precise lead counselling, precise characterization natural history condition, personalized effective approach. progress made research gene-specific therapies appear promising for improving quality life individuals affected

Language: Английский

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