EFEMP1 gene variants identified as cause of distinct vision loss

An international team of scientists has identified a new vision condition linked to the EFEMP1 gene. While previous research connected this gene to a disease causing loss of central vision, researchers have discovered that a different variant, p. Arg140Trp, causes a distinct condition affecting peripheral and night vision.

Researchers refer to this newly identified condition as EFEMP1-associated late-onset retinal degeneration (L-ORD). The pathology is characterized by an abnormal buildup of thick material between the cells of the eye. The study, published in JAMA Ophthalmology, involved the analysis of multiple unrelated families across different countries.

The research was conducted by a collaborative group including the Scheie Eye Institute at the University of Pennsylvania, the University of Edinburgh, the University of Basel, and Charles University.