Investigation of genotype–phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing

ABSTRACT

Background

Inherited retinal dystrophies (IRDs) are a group of retinal diseases genetically and clinically highly heterogeneous and associated with more than 300 genes. This study aims to investigate the genetic basis of Turkish patients with IRDs.

Materials and Methods

In the study, genes related to retinal diseases in 86 IRDs patients were analyzed using the Next Generations Sequencing method (NGS).

Results

The mean age of 86 patients was 35 and the mean age at diagnosis was 18. There was consanguinity between the parents of 62% of these patients. Fifty-six retinal disease-associated genes of 46 patients and 230 retinal disease-associated genes of 40 patients were examined. Genetic analysis provides a molecular diagnosis in a total of 53 (61.6%) patients. The genes responsible for the IRDs phenotype were frequently identified as ABCA4 (25%), EYS (11%), and RDH12 (9%). There was no significant difference between those with and without a molecular diagnosis in terms of demographic characteristics and family history.

Conclusions

Determination of genetic cause by NGS method in IRDs subgroups that are difficult to define by ophthalmic examination ensures that patients receive accurate diagnosis, treatment and counseling. This study contributed to the understanding of the genotype–phenotype relationship of Turkish patients with IRDs.

KEYWORDS:

• Inherited retinal dystrophies
• next-generation sequencing
• variant type
• gene
• inheritance pattern

Acknowledgments

The authors would like to thank all the patients who participated in this study.

A data availability statement

The data are available on special request.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Ethical interest statement

Research involving human participants and/or animals; The present cohort study involved human participants, and it was conducted considering ethical responsibilities according to the World Medical Association and the Declaration of Helsinki.

Informed consent

The independent Ethics Committee of the Ankara Dışkapı Yıldırım Beyazıt Training and Research Hospital approved this study (Document No.2019-75/12).

Supplemental data

Supplemental data for this article can be accessed on the publisher’s website.

Additional information

Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.