Juvenile Retinoschisis Treatment & Management

Updated: May 02, 2017
  • Author: Leslie Small, OD; Chief Editor: Donny W Suh, MD, FAAP  more...
  • Print
Treatment

Medical Care

No treatment is available to halt the natural progression of schisis formation in patients with X-linked juvenile retinoschisis (XLRS). However, the use of topical dorzolamide [4] and oral acetazolamide in reducing cystic spaces and foveal thickness with a concomitant increase in visual acuity has been reported. New, nonviral vectors for ocular gene therapy have potential implications for treatment of XLRS. Current gene therapy research on an Rs1h-deficient mouse model of human retinoschisis has shown restoration of expression of retinoschisin protein in photoreceptors and normal ERG configuration. While gene therapy for XLRS has not been trialed yet, recent phase I/II clinical trials for autosomal-recessive Leber congenital amaurosis type 2 has been proven safe and restores some vision. [5] Therefore, gene therapy may be a viable therapeutic option in the future.

Treatment of peripheral schisis cavities is generally not indicated because they can typically regress. Laser photocoagulation has been performed to flatten peripheral schisis cavities and to reduce the risk of retinal detachment; however, in many cases, it resulted in retinal detachment. Because of the nonprogressive nature of congenital retinoschisis, prophylactic photocoagulation may not be warranted. Surgical attempts to flatten peripheral schisis cavities in the absence of retinal detachment have not been shown to be beneficial. Therefore, a conservative approach is advocated.

Amblyopia prevention therapy is indicated in cases of hypermetropia or severe retinoschisis or following surgical intervention for vitreous hemorrhage or retinal detachment.

Next:

Surgical Care

Surgery can be performed for the management of vision threatening vitreous hemorrhage and retinal detachment.

Most patients who develop vitreous or intraschisis hemorrhage do not require treatment. Surgery is indicated if the hemorrhage is dense or if a blood-filled schisis cavity overhangs the macula. Cauterization of the bleeding vessels may be performed at the time of a vitrectomy.

Three types of retinal detachments are associated with congenital retinoschisis. Retinal detachment can be caused by a break in both the inner layer and the outer layer of the retinoschisis or by a full thickness retinal hole outside of the schisis cavity. The third type of retinal detachment involves a traction detachment via fibrovascular tissue.

Retinal detachment repair in congenital retinoschisis can be technically difficult. To repair a retinal detachment associated with a schisis cavity, care must be taken to remove as much of the vitreous attached to the schisis cavity as possible to relieve any tangential traction. Then, a retinotomy site can be made on the schisis cavity overlying the break in the outer retinal layer such that the schisis cavity and the outer retina can be flattened. An inner wall retinectomy is recommended when the cortical vitreous or preretinal fibrosis is densely adherent. Relief of vitreoretinal traction is believed to prevent the rebleeding of unsupported vessels. Internal tamponade can be achieved with a long-acting gas or with silicone oil. Silicone oil can be removed in a few weeks.

Previous
Next:

Consultations

Patients with X-linked juvenile retinoschisis should be referred to a vitreoretinal specialist for careful examination and follow-up visit. Family members should be examined to determine if any members remain undiagnosed.

Retinal detachments and vitreous hemorrhages associated with this disease should be managed surgically to preserve vision. The gene associated with X-linked juvenile retinoschisis has been identified. Genetic counseling should be offered to all patients with X-linked juvenile retinoschisis as well as to potential carriers and family members.

Previous
Next:

Diet

No reports on any significance of diet with X-linked juvenile retinoschisis have been noted.

Previous
Next:

Activity

Patients with XLRS are cautioned to avoid contact sports and activities that involve impacts.

Previous
Next:

Long-Term Monitoring

The course of the XLRS necessitates long-term monitoring of the patient. In childhood, the patient should be monitored frequently, as the disease often progresses at a young age. From the teenaged years to middle age, the disease typically stabilizes, during which time annual dilated funduscopy exams are sufficient. Older patients are once again at an increased risk of progression, vitreous hemorrhage, and retinal detachment. Closer monitoring and/or intervention is indicated in these patients. 

Previous