Research in children’s eye disorders leads to new understanding of possible signs and risk factors

Vancouver, BC
— Two new studies presented this week at the 2019 Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting in Vancouver, British Columbia show possible signs that may help doctors identify a common eye disorder as well as the spread of eye cancer. One study shows that a genetic marker may indicate a condition called Strabismus, which causes eye to appear misaligned. Another study shows a potential indicator for a quick spreading form of eye cancer.

Identifying genetic risk of susceptibility to strabismus

Strabismus is a disorder that typically develops in childhood, affecting approximately 2% to 4% of the population. Strabismus results in a misalignment of the eye from its central axis, or position, meaning that one eye will look directly at a viewed object, while the other eye is directed elsewhere. Using a large database, Denis Plotnikov, MD, and his team from Cardiff University found a genetic mutation that increases the risk of developing strabismus by approximately 25%. This association was then confirmed in a large population of 7-year olds (116 of whom had clinician-diagnosed strabismus and 5,084 of whom served as controls).

“Independent association of this genetic variant with strabismus — as well as with amblyopia and myopia — potentially opens up a new direction of research that will help to clarify the role of genetic factors in the development of childhood eye diseases,” said Plotnikov.

Abstract title: Genome-wide association study identifies a novel locus associated with strabismus
Presentation start/end time: Wednesday, May 1, 3:45 - 4pm
Location: West 220
Presentation Number: 5224

A new indicator for high-risk retinoblastoma: Avoiding metastasis and improving treatment plans

Retinoblastoma is the most common pediatric ocular cancer and frequently presents with increased intraocular pressure (IOP). Researchers at Children’s Hospital Los Angeles, led by Mary Elizabeth Kim, wanted to determine the specific IOP cut off value that best predicts the presence of histopathologic features indicative of high-risk disease. Kim conducted a retrospective analysis of 118 eyes enucleated due to retinoblastoma and discovered that eyes with an IOP of 34 mm Hg or greater at diagnosis were 5.91 times more likely to be associated with high-risk features than eyes with a normal IOP. This IOP cut off was found to be valid regardless of other clinical risk factors present.

“Clinicians can use this predictive information to better formulate their treatment plans and decisions regarding the safety of attempting eye salvage and delaying enucleation for pediatric patients with retinoblastoma,” explained Kim. Because high-risk disease is more often associated with metastasis, incorporation of this indicator into risk assessment at diagnosis could provide patients with more targeted treatments and improve their outcomes.

Abstract title: An intraocular pressure predictive of high-risk histopathologic features in group E retinoblastoma eyes
Presentation start/end time: Monday, April 29, 4 - 5:45pm
Location: West Exhibition Hall
Posterboard Number: A0378


The Association for Research in Vision and Ophthalmology (ARVO) is the largest eye and vision research organization in the world. Members include nearly 12,000 eye and vision researchers from over 75 countries. ARVO advances research worldwide into understanding the visual system and preventing, treating and curing its disorders. Learn more at

The 2019 ARVO Annual Meeting will take place in Vancouver, BC from April 28 – May 2. The Meeting is the premiere gathering of nearly 12,000 eye and vision researchers from around the world. During the Meeting, more than 6,600 abstracts will be presented on the latest basic and translational research in eye and vision science.

All abstracts accepted for presentation at the ARVO Annual Meeting represent previously unpublished data and conclusions. This research may be proprietary or may have been submitted for journal publication. Embargo policy: Journalists must seek approval from the presenter(s) before reporting data from paper or poster presentations. Press releases or stories on information presented at the ARVO Annual Meeting may not be released or published until the conclusion of the presentation.

Media contact:
Julene Joy