Abstract

Study Design: Cross-sectional observational study
Purpose: In this study, we evaluated the genotypic spectrum involved in the iridogoniodysgenesis (IDG) phenotype using exome sequencing.
Methods: Consecutive patients diagnosed with glaucoma and having atypical iris features were evaluated. Only one case per family was included for exome sequencing. We looked for variants in already known glaucoma genes. Missense variants in these genes with minor allele frequency of <0.001 in South Asians, were selected.
Results: Out of 68 unrelated patients with IDG and glaucoma, 56 were found to have variants in known glaucoma causing genes. FOXC1 variants contributed to the majority (41%), followed by CYP1B1 (20%), PITX2 (9%), ASB10 (9%) and COL11A1 (3%).
Conclusion: Apart from other genes, CYP1B1 variants are associated with IDG that generally present with neonatal onset glaucoma with extensive iris atrophy, corectopia and polycoria, expanding the phenotypic spectrum of CYP1B1 variations.