Family Screening in Glaucoma: A Scoping Review

Topic: To assess the prevalence of glaucoma among relatives of known patients with glaucoma, describe the response rate of relatives in different glaucoma family screening programs, and summarize the barriers to family members' participation in these screening programs. Clinical Relevance: Population-based screening for glaucoma is a challenge since the prevalence in the general population is low. The presence of a positive family history is a known risk factor for glaucoma, but implementing family screening programs has not become standard practice yet. Further, the literature regarding the ideal strategy for implementing targeted glaucoma family screening programs is unclear. Methods: Databases including MEDLINE, Embase, Scopus, Web of Science, Cochrane Library, Google Scholar, Joanna Briggs Institute database, and Epistemonikos were searched for relevant literature. We included studies describing probands with primary open-angle glaucoma, primary angle-closure disease, specifically primary angle-closure glaucoma and primary angle closure, pseudoexfoliation glaucoma, and pigmentary glaucoma. The concept of interest was the response rates of family members to the screening programs and the proportion of people with undetected glaucoma identified by these programs. We updated our search in February 2025. Results: Forty-two studies were included in the data synthesis. The median prevalence of glaucoma among relatives was 11.25% (interquartile range [IQR]: 8.1%–17.6%), and the median prevalence of glaucoma suspects was 19.45% (IQR: 8.4%–28.7%). Further, the median prevalence of glaucoma among offspring, parents, and siblings of probands across studies was 3.4% (IQR: 1.1%–8.8%), 31.6% (IQR: 20.9%–69.0%), and 16.2% (IQR: 10.4%–33.3%), respectively. The response rate of relatives to a screening program is highly variable. Direct contact with relatives, either via letters (median: 74.6%, IQR: 39%-82.4%) or telephone (median: 48%, IQR: 38.9%–69.8%), yielded better response in contrast to indirect communication through probands as in oral counseling of probands or issuing leaflets or cards to be given to their relatives (median: 12.9%, IQR: 8.6%–30.2%). Conclusion: Over 30% of relatives of known patients with primary glaucoma either have glaucoma or are diagnosed as suspects. Response rate to screening programs is low. These programs should focus on directly engaging with the relatives. More evidence is required to identify the ideal age at which glaucoma screening needs to commence. Financial Disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.