Juvenile X Linked Retinoschisis

You should look at the Normal Retina photo first for comparison. The color fundus photograph shows subtle radiating stria in the macula, a sign of the honeycomb like cavities in the macula found in all of these patients. Visual acuity is decreased in this condition to 20/25 to 20/80 usually by age 10. The condition is caused by a mutation in the gene for a protein called retinoschisin that is important in cellular adhesion in the retina. The gene is located on the X chromosome, so that males (with only one X chromosome) manifest the condition, and females (with two X chromosomes) are carriers. Further information can be found under the heading Information.