NR2E3-related disorders are a group of eye conditions that affect the retina, the part of the eye that helps us see.
People with these disorders often experience night blindness from a young age and a gradual decrease in vision. Healthcare providers use a test called an electroretinogram to diagnose the conditions, which shows a specific wave pattern in response to light. The severity of vision loss can vary among individuals. In the most serious cases, people may become legally blind in their teens, around the age of 20, and might also develop cataracts, which are clouding of the eye’s lens. This severe form is sometimes called Goldmann-Favre syndrome. Others may experience a slower decline in vision, with severe vision loss occurring in early to middle adulthood. Some individuals may retain some vision even as they get older, and this less severe form is known as enhanced S-cone syndrome. Unfortunately, there is no cure for these disorders, but certain aids like magnifying glasses and telescopes can help improve visual function. Cataract surgery might also be helpful. Some individuals may benefit from vitamin A palmitate therapy to slow retinal degeneration, and counseling and lifestyle therapy can assist in managing progressive vision loss.
This group of conditions is caused by pathogenic (disease-causing) variants in the NR2E3 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
There is also a type where only one parent needs to have the gene mutation for their children to be affected (autosomal dominant inheritance). The symptoms and age of onset can vary for this type, but night blindness typically starts in the second decade of life.