Congenital blindness

The first category pertains to consistently poor vision, such as not displaying preferential looking when presented with high-contrast visual stimuli.

[21] The following methods are used to test infant's vision: Pediatric nurses, medical officers and pediatricians trained in eye screening could detect small or large eyeballs, nystagmus, strabismus, “white pupils” and birth defects like coloboma and aniridia.

[2] People that are pregnant from families with a history of congenital blindness will be closely monitored and need to carry out genetic testing in order to identify whether there is a mutation or not.

[29] This is due to a decrease in preventable or avoidable causes of blindness with the improvement and focus on maternal and neonatal healthcare worldwide.

[6] There is limited knowledge on how childhood blindness affects long-term quality of life as there have not been many studies done to assess overall outcomes.

[6] Some potential questionnaires for gathering and assessing quality of life have been tested but not developed nor fully implemented in the healthcare system.

[37] In 2017, the U.S. Food and Drug Administration approved Voretigene neparvovec (Luxturna), a gene therapy medication used for the treatment of retinal dystrophy.

People with congenital amaurosis will present with reduced or absent levels of retinal pigment epithelium 65 kDa protein (RPE65).

[39] People must meet the following requirements to be eligible for Luxturna gene therapy: biallelic disease-causing RPE65 mutation, older than one year in age, no surgical contraindications, detectable photoreceptors and RPE, and measurable vision.