Netarsudil Joins the Glaucoma Toolbox

Zarmeena Vendal, MD

Cataract and Refractive Surgery Today

Canal-Based MIGS

Evolving procedures are leading toward an individualized, physiology-based approach to cataract-glaucoma surgery.

Murat Gunay, MD; Ronald L. Fellman, MD; Davinder S. Grover, MD, MPH

Cataract and Refractive Surgery Today

Genetic Testing in the Retina Practice

What’s changing and why it matters.

Timothy S. Lee, MD; Eric W. Lai, MD; and Sidney A. Schechet, MD

Retina Today

KEY TAKEAWAYS The latest diagnostic yield of genetic testing in suspected inherited retinal disease (IRD) cases ranges from 65% to 70%; 51% are initially misdiagnosed. To help improve access to genetic testing, several companies offer in-clinic or at-home testing kits, along with genetic testing analysis and, in some cases, genetic counseling. Genetic testing and referral to an IRD specialist can facilitate accurate diagnoses, provide insight into overall prognosis, guide family planning, and enable more personalized treatment strategies. Retina specialists play a critical role in the early detection of inherited retinal diseases (IRDs). While individually rare, they collectively affect approximately 1 in 1,000 people worldwide.1,2 The latest diagnostic yield of genetic testing in suspected IRD cases ranges from 65% to 70%, with 51% of cases initially misdiagnosed. On average, it takes 15 years for these patients to receive a correct diagnosis,3 although ophthalmologists can identify IRDs more efficiently than general medical genetics clinics by approximately 16 months.4 Thus, a detailed eye examination can raise clinical suspicion and help guide the decision to pursue genetic testing (Figure).5-7 Figure. This patient with high myopia presented with a retinal break (yellow arrow), vitreous veils (green arrow), and a rhegmatogenous RD. Genetic testing revealing a diagnosis of Stickler syndrome type IV. ADVANCES IN GENETIC TESTING Genetic testing for IRDs primarily relies on next-generation sequencing (NGS), using targeted panels of known IRD-associated genes to provide a relatively fast and accurate diagnosis. If NGS does not identify a causative mutation, particularly in those without a clear clinical diagnosis, broader approaches such as whole-exome sequencing (WES) or whole-genome sequencing (WGS) can be considered.8,9 WES enables comparison with all exons, including genes not found in a targeted gene panel sequencing,10 while WGS tests the entire genome and has a wider scope than WES.