The Significance of Screening Family Members in Glaucoma: Opportunities and Challenges

Abstract

Precis: This article delves into the imperative of screening family members of patients with glaucoma due to the disease’s hereditary nature. It discusses the significant risks faced by first-degree relatives, approaches for identification, and challenges in implementing effective screening strategies. Emphasizing education, targeted campaigns, community involvement, and collaborative healthcare approaches, the article highlights the potential for mitigating undiagnosed glaucoma cases through strategic interventions targeting high-risk individuals. Purpose: This article underscores the importance of screening family members of glaucoma patients, emphasizing the hereditary nature of the disease and the potential for screening to allow for early intervention to help prevent unnecessary vision loss. Methods/Results: Glaucoma, affecting over 111.8 million by 2040, is relatively asymptomatic until late in the disease. Genetics predispose to glaucoma, with up to 70% heritability. High-risk individuals, particularly first-degree relatives, exhibit substantially elevated glaucoma risks—up to 22% compared with 2.3% in controls. Family history also correlates with greater disease severity. Identifying high-risk family members through cascade screenings for causative genes or direct examinations during proband visits emerges as efficient strategies. Challenges persist, including slow progression, healthcare accessibility, and ethical dilemmas in implementing family member screening. Challenges extend to the healthcare system, socioeconomic barriers, and familial communication issues. Efforts to educate probands and the public on the hereditary nature of glaucoma are pivotal. Tailored education campaigns, leveraging clinic visits, and community screenings, complemented by optometrist collaboration, form essential strategies. Conclusions: Although challenges hinder family member screening, educating probands, targeted patient education, collaborative healthcare approaches, and community involvement offer promising avenues to combat undiagnosed glaucoma cases.