The Genetic Influence on Corticosteroid-Induced Ocular Hypertension: A Field Positioned for Discovery.

PURPOSE: To provide evidence that corticosteroid-induced ocular hypertension has a genetic component.

DESIGN

Evidence-based perspective.

METHODS

We conducted a comprehensive literature search for studies exploring genetic influences on intraocular pressure responses to corticosteroid treatment.

RESULTS

Studies demonstrating increased risk of corticosteroid-induced ocular hypertension among first-degree relatives of affected individuals support a genetic contribution to the disease. Family and personal history of primary open-angle glaucoma also increases the risk of corticosteroid-induced intraocular pressure elevation, suggesting common genetic etiologies. A number of studies have attempted to identify predisposing genetic factors; however, reproducible findings have not yet been reported. The recent availability of large data sets with clinical and genetic data for patients affected by corticosteroid-induced ocular hypertension and glaucoma provides new opportunities to study the genetic underpinnings of this important condition.

CONCLUSIONS

There is substantial evidence suggesting a genetic component to corticosteroid-related ocular hypertension and glaucoma, but specific genetic risk factors have yet to be identified. The current confluence of large genetic data sets and affordable genetic sequencing technologies has great potential for discovering the genes that increase risk for this blinding complication of corticosteroid therapy.