Primary infantile glaucoma is a rare ocular condition in this population that presents at a mean age of 4.4 months. Surgical and visual outcomes are generally favourable.

This study indicates that evaluations of cup-to-disc ratio and visual field, using telemedicine-friendly devices, are most useful tools in screening for glaucoma. When used together these devices may be an alternative for conventional glaucoma screenings.

Although this study reveals that Australian patients with ASD-associated infantile glaucoma are at greater risk of having children with infantile glaucoma than patients with PIG, the number of ASD pedigrees with direct transmission of infantile glaucoma is lower than expected. Based on our population frequency analysis and the results of our study, the risk of PIG, if one parent is affected by PIG and the other is normal, is less than 2%.