X-linked cone dysfunction syndrome with myopia

X-linked cone dysfunction syndrome with myopia is a rare eye condition that mainly affects the cones in the retina. People with this condition often experience moderate to high myopia (nearsightedness) along with astigmatism and difficulty distinguishing certain colors, particularly red and green (deuteranopia). Fewer than 10 families have been described in the literature so far. The condition is inherited in an X-linked recessive pattern, which means the gene responsible is located on the X chromosome. This makes the condition more likely to affect males, while females are typically carriers. The genetic locus has been mapped to the region Xq28, and the known gene associated with this condition is BED.

Common signs include moderate to high levels of myopia along with astigmatism. People with this condition may also have deuteranopia, which is a difficulty in distinguishing red and green colors. These vision issues are linked to problems with the cone cells in the retina.

This condition is caused by a genetic change on the X chromosome. It is inherited in an X-linked recessive manner, meaning that males are more commonly affected while females may be carriers. The genetic locus has been mapped to the Xq28 region, and the BED gene has been associated with the disorder.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition. Due to the rarity of the disorder, with less than 10 families described, more studies are needed to better understand and manage the condition.