Inherited Retinal Diseases

Accurate genotyping in patients with inherited retinal diseases remains questionable

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Next generation sequencing (NGS) in inherited retinal diseases (IRD) has a diagnostic yield between 52-74%, with low certainty of evidence, according to a study that highlights the importance of accurate genotyping in people with IRDs to identify good candidates for gene therapies.

In this systematic review and meta-analysis, 105 clinical studies evaluating the diagnostic yield of NGS in individuals with IRDs were evaluated. Targeted gene panels were used in most studies (n = 90).

The diagnostic yields of NGS were as follows:

Mixed IRD phenotypes- 61.3%
Rod-cone dystrophies- 58.2%
Macular and cone/cone-rod dystrophies- 57.7%
Familial exudative vitreoretinopathy- 47.6%

Researchers were able to achieve a higher diagnostic yield for mixed IRD phenotypes by pooling studies published between 2018-2022 (64.2%), studies using exome sequencing (73.5%), and studies using the American College of Medical Genetics variant interpretation standards (65.6%).

Britten-Jones AC, Gocuk SA, Goh KL, et al. The diagnostic yield of next generation sequencing in inherited retinal diseases: A systematic review and meta-analysis. Am J Ophthalmol. 2022;S0002-9394(22)00525-6. doi: 10.1016/j.ajo.2022.12.027. Epub ahead of print. PMID: 36592879.