Abnormal Iris Processes May Be a Marker of Glaucoma Gene Carrier Status in Some Cases of Primary Infantile Glaucoma

Abstract

Purpose: To report the presence of dense and abnormal iris processes in the unaffected parents and sibling of a non consanguineous family where 3 children out of 4 suffer from primary infantile glaucoma (PIG). Methods: A descriptive case report. All family members were clinically characterized. Candidate gene screening and chromosome analysis were also performed. Results: The 3 children with PIG displayed a spectrum of anterior chamber angle anomalies with the absence of posterior embryotoxon and iridotrabeculodysgenesis abnormalities. Unaffected family members had dense and abnormal iris processes but no features of glaucoma. Candidate gene screening and chromosome analysis were normal. Conclusion: Iris processes indicate angle maldevelopment and may signify carrier status of an autosomal recessive glaucoma gene. Identification of iris processes in relatives of PIG children is a useful clinical sign that may be of benefit for genetic counseling and risk stratification purposes.

Keywords:

• Glaucoma
• Iris processes
• CYP1B1
• MYOC
• embryology