Keep an Eye on Next Generation Sequencing (NGS) Technology: Secondary Findings and Differential Diagnosis in Inherited Retinal Dystrophies (IRDs) DOI Creative Commons
Fabiana D’Esposito,

Matteo Capobianco,

Caterina Gagliano

и другие.

Biomedicines, Год журнала: 2025, Номер 13(5), С. 1117 - 1117

Опубликована: Май 5, 2025

Background: Next Generation Sequencing (NGS) Technology has represented a revolution in the molecular characterization of Inherited Retinal Dystrophies (IRDs), which are among most genetically and phenotypically heterogeneous conditions. NGS allowed consistent number patients affected by IRDs, but at same time, unexpected results can pose diagnostic dilemmas. Aim: The purpose this review is to describe possible scenarios as reference for ophthalmologists geneticists who involved particularly complex field. Methods: A existing literature been performed. In addition, examples have brought, from series that analyzed University Naples “Federico II”-CEINGE Biotecnologie Avanzate “Franco Salvatore”. Results: Unexpected genetic IRDs not uncommon. main findings additional variants potentially modify phenotypes, deletions masked apparent homozygosity, pathogenic leading phenotypes revisitation. Conclusions: high phenotypic heterogeneity characterizing greatly advantaged advent Technology. At uncommon finding data poses criticisms need be addressed. review, we scenarios, go through some more genotype–phenotype correlations.

Язык: Английский

Keep an Eye on Next Generation Sequencing (NGS) Technology: Secondary Findings and Differential Diagnosis in Inherited Retinal Dystrophies (IRDs) DOI Creative Commons
Fabiana D’Esposito,

Matteo Capobianco,

Caterina Gagliano

и другие.

Biomedicines, Год журнала: 2025, Номер 13(5), С. 1117 - 1117

Опубликована: Май 5, 2025

Background: Next Generation Sequencing (NGS) Technology has represented a revolution in the molecular characterization of Inherited Retinal Dystrophies (IRDs), which are among most genetically and phenotypically heterogeneous conditions. NGS allowed consistent number patients affected by IRDs, but at same time, unexpected results can pose diagnostic dilemmas. Aim: The purpose this review is to describe possible scenarios as reference for ophthalmologists geneticists who involved particularly complex field. Methods: A existing literature been performed. In addition, examples have brought, from series that analyzed University Naples “Federico II”-CEINGE Biotecnologie Avanzate “Franco Salvatore”. Results: Unexpected genetic IRDs not uncommon. main findings additional variants potentially modify phenotypes, deletions masked apparent homozygosity, pathogenic leading phenotypes revisitation. Conclusions: high phenotypic heterogeneity characterizing greatly advantaged advent Technology. At uncommon finding data poses criticisms need be addressed. review, we scenarios, go through some more genotype–phenotype correlations.

Язык: Английский

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