Start My Family Tree Welcome to Geni, home of the world's largest family tree.
Join Geni to explore your genealogy and family history in the World's Largest Family Tree.

Retinoschisis is an eye disease characterized by the abnormal splitting of the retina (the tissue lining the inside of the back of the eye that transmits visual signals to the optic nerve and brain) has separated into two layers.

  • Most common forms are asymptomatic, some rarer forms result in a loss of vision in the corresponding visual field.
  • The disorder is characterized by a slow, progressive loss of parts of the field of vision corresponding to the areas of the retina that have become split. Either form may be associated with the development of saclike blisters (cysts) in the retina.
  • When the retina splits, tiny lumps called cysts form between the layers. These cysts damage nerves and keep light signals from reaching the brain. Damaged nerves can make your vision blurry.

Synonyms of Retinoschisis

  • Congenital Retinal Cyst
  • Congenital Vascular Veils in the Retina
  • Giant Cyst of the Retina
  • Vitreoretinal Dystrophy

4 Classifications:

  • 1) Hereditary retinoschisis is derived from a defective retinoschisin protein, which is due to an X-linked genetic defect.

//en.wikipedia.org/wiki/Retinoschisis#/media/File:Xlink_dominant_mother_original.jpg

  • Image showing inheritance of X-linked dominant mutation from an affected mother. A woman with an X-linked dominant disorder has a 50% chance of having an affected daughter or son with each pregnancy. From [1] en:Category:Medical genetics images
    • The genetic form of this disease usually starts during childhood and is called X-linked Juvenile Retinoschisis (XLRS) or Congenital Retinoschisis.
    • Affected males are usually identified in grade school, but occasionally are identified as young infants.
    • Usually, and almost always with the juvenile form, both eyes are affected (bilateral). The juvenile form is the more serious form of retinoschisis.
    • In this form of retinoschisis, a mutation or abnormal gene is carried on the X chromosome.  Men have only one X chromosome, while women have two.  Therefore, women can carry the condition, but because they almost always have another normal X chromosome, they typically retain normal vision, even as carriers.  Men, on the other hand, will develop subnormal vision if they have an affected X chromosome.  
    • It is estimated that this much less common form of retinoschisis affects one in 5,000 to 25,000 individuals, primarily young males.
    • If the retinoschisis involves the macula, then the high-resolution central area of vision used to view detail is lost, and this is one form of macular disease. Although it might be described by some as a "degeneration", the term macular degeneration should be reserved for the specific disease "age-related macular degeneration".
    • Very few affected individuals go completely blind from retinoschisis, but some sufferers have very limited reading vision and are "legally blind". Visual acuity can be reduced to less than 20/200 in both eyes.
    • Individuals affected by XLRS are at an increased risk for retinal detachment and eye hemorrhage, among other potential complications.
    • Retinoschisis causes acuity loss in the center of the visual field through the formation of tiny cysts in the retina, often forming a "spoke-wheel" pattern that can be very subtle. The cysts are usually only detectable by a trained clinician. In some cases vision cannot be improved by glasses, as the nerve tissue itself is damaged by these cysts.
    • The National Eye Institute (NEI) of the National Institutes of Health (NIH) is conducting clinical and genetic studies of X-Linked Juvenile Retinoschisis. This study began in 2003 and as of 2018 is continuing to recruit patients. A better understanding of why and how XLRS develops might lead to improved treatments. Males diagnosed with X-linked juvenile retinoschisis and females who are suspected carriers may be eligible to participate. In addition to giving a medical history and submitting medical records, participants submit a blood sample and the NEI will perform a genetic analysis.
      • There is no cost to participate in this study.
  • 2) Degenerative retinoschisis (Senile Retinoschisis) is the splitting of the retina as a result of aging.
    • This type of retinoschisis is very common with a prevalence of up to 7 percent in normal persons.
    • Its cause is unknown.
    • Degenerative retinoschisis is not known to be a genetically inherited condition. There is always vision loss in the region of the schisis as the sensory retina is separated from the ganglion layer. But as the loss is in the periphery, it goes unnoticed. It is the very rare schisis that encroaches on the macula where retinopexy is then properly used.
    • This form, sometimes called SR, usually affects men and women in their 50s to 70s, but it can start earlier in life. It’s not as serious as the juvenile form and rarely causes vision loss.
    • It can easily be confused with retinal detachment by the non-expert observer and in difficult cases even the expert may have difficulty differentiating the two.
      • Such differentiation is important since retinal detachment almost always requires treatment while retinoschisis never itself requires treatment and leads to retinal detachment (and hence to visual loss) only occasionally. Unfortunately one still sees cases of uncomplicated retinoschisis treated by laser retinopexy or cryopexy in an attempt to stop its progression towards the macula. Such treatments are not only ineffective but unnecessarily risk complications.
    • There is no documented case in the literature of degenerative retinoschisis itself (as opposed to the occasional situation of retinal detachment complicating retinoschisis) in which the splitting of the retina has progressed through the fovea.
  • 3) Tractional may be present in conditions causing traction on the retina especially at the macular.
    • This may occur in: a) The vitreomacular traction syndrome; b) Proliferative diabetic retinopathy with vitreoretinal traction; c) Atypical cases of impending macular hole.
  • 4) Exudative
    • Retinoschisis involving the central part of the retina secondary to an optic disc pit was erroneously considered to be a serous retinal detachment until correctly described by Lincoff as retinoschisis. Significant visual loss may occur and following a period of observation for spontaneous resolution, treatment with temporal peripapillary laser photocoagulation followed by vitrectomy and gas injection followed by face-down positioning is very effective in treating this condition.

Retinoschisis affects two primary aspects of vision. 

  • Central vision can be impaired, with visual acuity ranging from 20/30 to less than 20/200.  Acuity loss is caused by the formation of tiny cysts between the separated layers of the retina. These cysts often form a "spoke-wheel" pattern which is very subtle and is usually detected only by a trained clinician. Since the nerve tissue is damaged by these cysts, visual acuity cannot be improved with glasses.  
  • Peripheral vision can also be lost if the inner layer of nerve cells split off from the outer layer of cells.

Retinoschisis can be confused with other eye diseases, such as amblyopia (lazy eye). If someone in your family has retinoschisis and you are diagnosed with amblyopia you should have a thorough exam by an ophthalmologist experienced in diagnosing this condition.

Tests and Diagnosis

  • Starts with an accurate documentation of family history.
  • Eye examination to check for tears or splits in the retina.
  • The electroretinogram (ERG) is used to assess function of the nerve tissue in the retina. A special sensor is placed in each eye. While you look at a flashing light, the doctor will see how your retinas respond.
    • ERGs are easily obtained on adults and children under 24 months of age.  However, ERGs performed on children between the ages of two and five can be difficult and often require general anesthesia.
  • Optical coherence tomography (OCT): Light waves make pictures of the retina.
  • Ultrasound: Sound waves create pictures of the eyes. This can show bleeding in the eye.
  • Gene tests: Theselook for the RS1 gene that causes juvenile X-linked retinoschisis.
  • People with juvenile retinoschisis should get regular eye exams to check for vision loss.

Treatment and Drugs

  • Carbonic anhydrase inhibitors might be beneficial in reducing the cystic spaces observed in X-linked retinoschisis.
  • There is no medical treatment for degenerative retinoschisis; however, vitrectomy surgery is occasionally required for complications related to either type of retinoschisis.
  • Glasses may improve the overall quality of vision in a patient with retinoschisis who is also near-sighted or farsighted, but will not "repair" the nerve tissue damage from the retinoschisis.
  • Vitamin A does not appear to help in retinoschisis.
  • Bleeding in your eye is treated with a laser or with cold (cryotherapy) to close damaged blood vessels in the retina. Surgery can fix a detached retina.
  • Researchers are testing new treatments for retinoschisis. One of these replaces the damaged gene with a copy of a healthy gene. Stem cell treatments are also being studied.
  • Patients should get regular eye checkups done to detect any vision loss. If there is detachment of the retina, then surgery is done to fix it.

Statistics on Retinoschisis

  • The commonest form of retinoschisis is the degenerative or senile retinoschisis. Degenerative retinoschisis affects 4-22% of individuals older than 40 years old, commonly in the age group of 50-60.
  • However, the rarer form of retinoschisis affecting mostly children is very rare, happening in the figures of 1 in 5000 to 1 in 25000 of the population. The condition is inherited on the X chromosome so tends to affect males (XY) instead of females (XX) as they still have another normal functioning X chromosome.

Progression of Retinoschisis

  • Retinoschisis is basically a benign disease. Not only do most of the patients have no symptoms, the disease itself can remain static or progress extremely slowly over time.
  • However, serious complications can develop from retinoschisis. Retinal detachment can occur from retinoschisis. This means that the retinal layer (which is important for vision) becomes separated from the inner wall of the eye, leading to some loss of vision.

Prognosis of Retinoschisis

  • Generally speaking, the prognosis for retinoschisis is favourable as the disease tends to progress extremely slowly, or remains unchanged for a long period of time.

References & Additional Reading: