Abstract

In a large family with JOAG, early onset POAG,JOAG suspect & POAG suspect were screened for myocilin (MYOC) mutations.Myocilin gene mutation N480K (c.1440C>G) was detected in 20 family members including proband, of whom 8 were JOAG and 7 were POAG patients, three JOAG suspects and two were unaffected. Among the unaffected carriers, one was less than five years old, and another was 25 years old. The earliest to develop the disease was a ten-year-old child. The penetrance of the mutation was 95% over ten years of age. This family had JOAG/POAG suspects with no N480K MYOC mutation and they were further screened for other mutations using whole-exome sequencing. Polymorphisms CYP1B1 L432V and MYOC R76K were detected in three JOAG/POAG suspects, and among these three, one had another CYP1B1 polymorphic variant R368H. The presence of the CYP1B1 polymorphism along with a MYOC – polymorphic variant among the JOAG/POAG suspects needs to explore their combined role in the onset of glaucoma.

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