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SYMPTOMS
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Decrease in vision, Metamorphopsia, Flashes, Floaters
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SIGNS
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Bilateral
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Foveal schisis with a stellate appearance (“Bicycle wheel spoking”), Peripheral retinoschisis at the level of the nerve fiber layer (most commonly found inferior temporal), Inner retinal breaks in the peripheral retinoschisis that can lead to vitreous hemorrhages and rhegmatogenous retinal detachments, Tractional retinal detachments, Macular ectopia, Vitreous veils
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As a patient gets older (fifth to sixth decade of life), the stellate appearance of the macula will turn into RPE alterations/atrophy and possibly even a macular hole
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WORK-UP
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EOMs (a nystagmus may be noted in severe cases), Cover test (strabismus may be present), Color vision (typically normal), Full eye exam with dilated retinal exam, Visual field (presence of absolute scotomas correlating to area of peripheral retinoschisis), OCT analysis of the macula (Schisis is typically noted within the nerve fiber layer but can be within other retinal layers as well. Early on in the disease, the cystic spaces tend to be larger especially at the fovea but as a patient gets older the cystic spaces get flatter and smaller), Fundus Autofluorescence, Fluorescein Angiography (no leakage present at the macula), Fundus photos, Infrared photos, Electrodiagnostic testing (ERG: Abnormal b-wave / EOG), Watzke-Allen test, Macular photostress test, Amsler grid
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TREATMENT
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Give take home Amsler grid in order to monitor for change
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Contact sports should be avoided due to high risk of retinal detachments
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If there is no evidence of a peripheral retinoschisis with inner retinal breaks, vitreous hemorrhage, retinal detachment, or macular hole, the patient needs to be monitored
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Consider using topical dorzolamide 1gtt BID-TID to improve schisis cavities noted on the OCT. Oral acetazolamide can be considered instead of topical dorzolamide but would need to be used with caution due to the potential complications of long-term use. Always keep in mind the contraindications and side effects before prescribing these medications
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Recommend genetic counseling for other family members
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If the patient develops a vitreous hemorrhage, the patient should sleep with their head elevated
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Consider discontinuing or lowering the dosage of any blood thinners in the presence of a vitreous hemorrhage (needs to be discussed with PCP)
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If the patient develops a vitreous hemorrhage, rhegmatogenous retinal detachment, tractional retinal detachment, macular hole, or a peripheral retinoschisis with inner retinal breaks, refer the patient to a retinal specialist ASAP for further evaluation and treatment
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If the patient develops poor vision, refer to low vision
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FOLLOW-UP
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If patient is being monitored without using any carbonic anhydrase inhibitors and has no evidence of a peripheral retinoschisis with inner retinal breaks, vitreous hemorrhage, retinal detachment, or macular hole, the patient should be seen every 6 months
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If patient is being monitored while using topical dorzolamide and has no evidence of a peripheral retinoschisis with inner retinal breaks, vitreous hemorrhage, retinal detachment, or macular hole, the patient should be seen back every 3-4 months (If the patient is using oral acetazolamide, the patient would need to be monitored on an even more frequent basis)
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After patient is evaluated and treated by a retinal specialist and the retina is stable, the patient should be seen back every 6 months
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ADDITIONAL LAB | TESTS
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Genetic testing: RS1
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If patient is using long-term carbonic anhydrase inhibitors (especially oral acetazolamide), the patient needs to have kidney and liver function monitored
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ETIOLOGY
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Inherited disorder that occurs due to a mutation in the RS1 gene which leads to Muller cell dysfunction (RS1 plays a role in the production of Retinoschisin which is an adhesive protein that binds to the surface of specialized retinal cells)
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DIFFERENTIAL DX
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Eale disease, Goldmann-Favre syndrome, Degenerative retinoschisis, Cystoid macular edema
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NOTES
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Juvenile X-linked retinoschisis occurs almost exclusively in males
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Patients with juvenile X-linked retinoschisis tend to be hyperopes
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Vision in these patients can be anywhere from 20/30 to 20/200 (Average VA is 20/70)
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Vision typically slowly decreases until young adulthood and then tends to stabilize. However, during the fourth to sixth decade of life, the vision loss starts to progress at a more rapid and significant rate
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The “bicycle wheel spoking” noted at the macula is best seen with red free when using a fundus lens
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Female carriers typically have normal vision with a normal fundus appearance
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