Ocular findings and genomics of X-linked recessive disorders: A review

Advent of new sequencing technologies and modern diagnostic procedures has opened the door for a deeper understanding of disorders about which little was known previously. Discovery of novel genes, new genetic variants in previously known genes and better techniques of functional validation has immensely contributed to unraveling the molecular basis of genetic disorders. Availability of knockout animal models like the zebrafish and gene editing tools like CRISPR-Cas9 has elucidated the function of many new genes and helped us to better understand the functional consequences of various gene defects. This has also led to better diagnosis and therapeutic interventions. In this context, a good body of research work has been done on X-linked recessive disorders with ocular findings. This review will focus on ocular and genetic findings of these rare disorders. To our knowledge, this is the first comprehensive review encompassing ocular and genomic spectrum of X-linked recessive disorders.

Automated summary

The advent of new sequencing technologies and diagnostic procedures has facilitated a deeper understanding of previously unknown disorders. This has been achieved through the discovery of novel genes and variants, as well as advances in functional validation techniques. Animal models and gene editing tools have contributed to elucidating gene functions and improving diagnosis and treatment. This review provides a comprehensive overview of ocular and genetic findings in X-linked recessive disorders, which has not been done before.