Juvenile X-linked retinoschisis is a genetic disease of the retina whose symptoms start in childhood, and this condition, which only affects boys, affects both eyes.
Only boys are affected by this rare genetic disease. Photo source: archive
“This one disorder it affects the central area of the retina called the macula, which is the thin layer of light-sensitive cells that lines the back of the eyeball and is responsible for the central vision needed for detailed tasks such as reading. In approximately 50% of cases, the peripheral retina is also affected. It is important to remember that any damage to the retina affects the clarity of vision, often irreparably”explained Dr. Elena Avram, an ophthalmologist superspecialized in genetic ophthalmological conditions.
Globally, the prevalence of juvenile retinoschisis is estimated at 1 in 5,000 to 1 in 25,000 males. Why does this condition occur? About 200 mutations have been identified in the RS 1 gene, which synthesizes a protein called retinoschisin and which is responsible for retinal cell adhesion. Mutations in this gene result in decreased or complete loss of functional retinoschisis. Consequence? Cystic spaces form within the retina that affect visual acuity.
Symptoms of the disease appear in childhood
The disease is usually diagnosed around the age of 6.7, when boys start school and it becomes apparent that they have difficulty reading. Each patient is unique and the course of the disease is different. While some patients show symptoms from a young age, others discover they have the disease in adulthood. Visual acuity declines slowly until adolescence, and then, in most patients, a period of stability is observed until adulthood. In the fourth or third decade of life, a significant decrease in visual acuity is observed again, accompanied by the appearance of areas of retinal atrophy and retinal pigment migrations. Among the early symptoms of this disease are strabismus, farsightedness, amblyopia (lazy eye) but also abnormal, involuntary eye movements. The condition, untreated, can lead to severe complications that leave the patient without sight. Among them: retinal detachment.
A lifelong diagnosis
The diagnosis is made following an ophthalmological consultation with a fundus examination (visualization of the retina). In addition, a series of investigations are necessary such as the electroretinogram that evaluates the functionality of the retinal cells, optical coherence tomography of the macula and retinal autofluorescence. Women carrying this genetic mutation, although they do not show symptoms of the disease, will pass the condition on to their children. Adherence to the recommended treatment is mandatory and has the role of slowing down the evolution of the condition, maintaining the best possible vision and preventing complications.
