Keratoconus is a degenerative disorder of the eye in which structural changes within the cornea, or clear front surface of the eye, cause it to thin and change to a more conical shape which distorts and impairs vision.
It effects from 1 in 500 to 1 in 2000 people worldwide. Keratoconus is often difficult to detect and diagnose in its early stages.
In a recent study, Avellino Labs used state of the art next generation sequencing (NGS) to examine DNA collected from more than 200 keratoconus patients from different clinics and institutions from around the world.
The company was able to identify four DNA variants within three different genes that conferred genetic risk factors in 9 to 21% of patients within the study group from Korea.
These percentages imply a statistically significant increased risk for keratoconus. Avellino Labs intends to launch a test to screen for these four mutations for use in Korea, Japan and China in the first quarter of 2017.
John Marshall, PhD, FRCPath, FMedSci, concurrently Medical Advisory Board member at Avellino Labs and Frost Professor of Ophthalmology at UCL Institute of Ophthalmology and Moorfields Eye Hospital, commented, "At Avellino Labs we are excited to be able to offer the first genetic predictor of relative risk of keratoconus in Asian eyes, which often hits in the prime of life and progressively impairs vision over time.
"Most importantly, the Avellino DNA Test represents a sea change detecting keratoconus early in order to inform surgeons performing laser vision correction and to improve keratoconus patient care."
Avellino Labs continues to invest in research and development aimed at expanding its molecular diagnostic platform.
The company's aim is to provide a comprehensive diagnostic assay to determine a definitive risk factor for keratoconus for patients on a global level.
