X-linked retinal dystrophy is a condition that causes gradual vision loss due to a decreased function of photoreceptors, which are cells in the eye that help us see.
Most males with RPGR-related X-linked retinal dystrophy start to lose their vision during childhood, although some might not notice symptoms until their twenties or thirties. Symptoms can include loss of side vision (known as “tunnel vision”), central vision loss, trouble seeing colors or seeing at night (night blindness), sensitivity to light, and nearsightedness (myopia).
This condition has no cure, but using low-vision aids like glasses may help with eye comfort. Wearing UV-A and UV-B-blocking sunglasses can also be beneficial. Some states offer services to help people with progressive eye disorders maintain a good quality of life. Research into advanced treatments, like gene therapy, is ongoing.
RPGR-related X-linked retinal dystrophy is caused by pathogenic variants in the RPGR gene and exhibits X-linked recessive inheritance. This means that one pathogenic variant is enough to cause the disease in both individuals assigned male at birth (who have one X chromosome and one Y chromosome) and individuals assigned female at birth (who have two X chromosomes) may experience symptoms depending on how many copies of the X chromosome that has the pathogenic variant are turned on in the cells.
Some female carriers may have some vision issues. Sometimes, vision issues are milder, but some female carriers have vision loss as severe as an affected male. Many females have differences in the back inner surface of the eye (fundus) that can be seen on an eye exam.
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Written August 2024
