Juvenile Retinoschisis

Updated: Feb 09, 2017
  • Author: Kent W Small, MD; Chief Editor: Donny W Suh, MD, FAAP  more...
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Overview

Background

In 1898, Haas first described X-linked juvenile retinoschisis (XJR). This condition is also known as vitreous veils, congenital vascular veils in the vitreous, and congenital cystic retinal detachment; however, Jaeger introduced the term retinoschisis in 1953.

An example of juvenile retinoschisis is shown in the image below.

Fundus photograph of juvenile retinoschisis demons Fundus photograph of juvenile retinoschisis demonstrating stellate spokelike appearance with microcysts.
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Pathophysiology

Using positional cloning, Sauer and associates identified XLRS1, the gene responsible for X-linked juvenile retinoschisis. [1] XLRS1 is located on band Xp22.2. XLRS1 encodes a 224 amino acid protein retinoschisin that is expressed in photoreceptor and bipolar cells. Retinoschisin is a secreted protein that is involved in cellular adhesion and cell-cell interactions within the inner nuclear layer as well as synaptic connection between photoreceptors and bipolar cells. Defective or absent retinoschisin may reduce adhesion of the retinal layers, resulting in the creation of schisis cavities.

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Epidemiology

Frequency

United States

Prevalence of X-linked juvenile retinoschisis ranges from 1 case per 5,000 population to 1 case per 25,000 population.

International

The highest prevalence has been reported in Finland. X-linked juvenile retinoschisis has also been reported in Indonesian, Chinese, Japanese, Indian, and Portuguese families.

Mortality/Morbidity

Early in life, the central vision usually is mildly impaired because of a cyst in the fovea. Later, the central vision can become impaired more markedly, resulting in symptoms similar to those of macular degeneration. More seriously, retinal detachments can occur when holes in the inner and outer retinal layers are present. The incidence rate is 5-22% of individuals affected. X-linked juvenile retinoschisis is the most common cause of vitreous hemorrhage in young boys. [2] Other complications include neovascular glaucoma, vitreoretinal traction with secondary macular dragging, and secondary optic atrophy.

Race

This condition has been reported in whites, Cherokee Indians, and blacks.

Sex

Although this disease is primarily seen in males, a homozygous woman from a consanguineous marriage can also be affected. The daughters of males with X-linked juvenile retinoschisis are obligate carriers, whereas the sons are spared. No male-to-male transmission should be seen in families with this disease. Male offspring of two carriers have a 50% chance of being affected; female offspring have a 50% chance of being a carrier. Some cases can seem sporadic because other males in the family may be affected so mildly that they have never been diagnosed.

Age

Patients have been diagnosed as early as age 3 months; however, most patients are seen at 5 years or older. They are typically referred when they fail to pass a school vision screening test. X-linked juvenile retinoschisis often presents in a young boy with slightly decreased vision that cannot be corrected fully by refraction. Diagnosis is easily missed during early onset.

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