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      Drugs & Diseases > Ophthalmology

      Juvenile Retinoschisis

      Updated: Sep 20, 2023
      • Author: Kent W Small, MD, FASRS; Chief Editor: Donny W Suh, MD, MBA, FAAP, FACS  more...
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      Overview

      Practice Essentials

      Retinoschisis is a condition described as the splitting of the retinal layers - which results in compromised vision in the area affected. There are 2 major causes of juvenile retinoschisis: one is Juvenile X-linked Retinoschisis and the second results from abusive head trauma (AHT). [1] X-linked retinoschisis occurs almost exclusively in males given its X-linked hereditary pattern and is associated with impaired vision, which begins at a young age. Below is an example of fundus photography in juvenile retinoschisis.

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

      In 1898, Haas first described what is now known as X-linked juvenile retinoschisis (juvenile XLRS) in a paper entitled 'Ueber das Zusammenvorkommen von Veränderungen der Retina und Choroidea.' [2]  Following Haas' initial characterization of XLRS, Pagenstecher published a pedigree in 1913 showing the X-linked inheritance pattern of the disease. [3]  Multiple different names became descriptors of the disease, based on the variable clinical presentations seen, such as "neuroretinal disease in males", "congenital vascular veils", "congenital cystic retinal detachment", and "anterior retinal dialysis", ultimately leading to the term "X-linked retinoschisis" coined by Jager in 1953. [4, 5, 6, 7]

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      Pathophysiology

      Using positional cloning, Sauer and associates identified XLRS1, the gene responsible for X-linked juvenile retinoschisis. [8]  XLRS1 is located on band Xp22.2. XLRS1 encodes a 224 amino acid protein called retinoschisin, which is expressed in photoreceptor and bipolar cells. Retinoschisin is a secreted protein found throughout the retina and is involved in intercellular adhesion, retinal cellular organization, 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

      X-Linked juvenile retinoschisis (juvenile XLRS) is a relatively rare inherited retinal disease. Prevalence of juvenile XLRS ranges from 1 case per 5,000 population to 1 case per 30,000 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. [9] 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 also can 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 2 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. Infants can present with nystagmus, strabismus, or amblyopia, whereas school-aged children typically present when they complain of poor vision in class or with activities, or after 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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      Prognosis

      Visual deterioration usually presents during the first decade of life, with visual acuity ranging from 20/60 to 20/120 at presentation. Often, visual acuity will deteriorate during the first 2 decades of life, but will stabilize throughout adulthood. Usually during fifth and sixth decades of life significant decline in visual acuity can transpire, which can lead to legal blindness in later decades (typically in a man's seventies or eighties). Complications may develop, including retinal detachment or vitreous hemorrhages, which can further impair visual acuity. Though there is no cure for juvenile XLRS, identification of individuals with the disease can lead to medical management, and visual acuity should be adequately preserved.

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      Patient Education

      Any change in vision in children, including complaints of blurriness or decreased central or peripheral vision, should prompt evaluation by an eye specialist. Educating patients and family members on the symptoms of serious complications such as vitreous hemorrhage and retinal detachment in patients diagnosed with juvenile XLRS can result in prompt detection and management of these events, as without quick intervention these can lead to irreversible blindness. Patients should be educated to avoid trauma to the head and avoid high impact sports due to the increased risk of retinal detachment.

      Genetic counseling is an important conversation for these patients and their family members.

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