A Swedish study at Skåne University Hospital ”A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing” has been published in the A July 2023 special edition of the journal, Genes(1).

The study objective was to investigate to what extent renewed comprehensive genetic testing of patients diagnosed with IRD but with previously inconclusive DNA test results can verify the genotype, if confirmation of the genotype has an impact on the understanding of the clinical picture, and to describe the genetic spectrum encountered in a Swedish IRD cohort.

The genetic testing for the study was performed by Blueprint Genetics using a next-generation sequencing (NGS) panel for inherited retinal disease which includes 322 genes.

The objective was to investigate to what extent renewed comprehensive genetic testing of patients diagnosed with IRD but with previously inconclusive DNA test results can verify the genotype if confirmation of the genotype has an impact on the understanding of the clinical picture.

[Conclusion: Repeated DNA-analysis was beneficial also in previously tested patients and improved our ability to verify the genotype–phenotype association, increasing the understanding of how visual impairment manifests, prognosis, and the inheritance pattern

Moreover, repeated testing using a widely available method could identify additional patients eligible for future gene-based therapies.]

1. Areblom M, Kjellström S, Andréasson S, Öhberg A, Gränse L, Kjellström U. A description of the yield of genetic reinvestigation in patients with inherited retinal dystrophies and previous inconclusive genetic testing. Special issue: Genetics in Retinal Diseases. Genes. 2023;14(7):1413. doi:10.3390/genes14071413 https://doi.org/10.3390/genes14071413