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Retinoschisis

BASICS

- X-linked recessive - Mechanism: Mutation in discoid, in domain of retinoschisin (RS1) gene. Retinoschisin is a 224-amino acid membrane protein involved in cellular adhesion and retinal integrity (1,2). - X-linked recessive inheritance - Female carriers typically with no clinical signs - No male-to-male transmission

- X-linked recessive - Axial hypermetropia - Posterior staphyloma formation

- Goldmann-Favre syndrome - Foveal schisis with nyctalopia and pigmentary clumping - ERG usually extinguished

- Macular edema - Etiologies: diabetic retinopathy, intraocular surgery, retinal vein occlusion, uveitis, retinitis pigmentosa, inherited cystoid macular edema - Characteristic clinical features of primary disease process - Leakage seen on fluorescein angiography (FA)

Retinoschisis is a condition in which a portion of the retina has separated into two layers, resulting in visual field defects.

DESCRIPTION

Types

  • X-linked recessive retinoschisis (also referred to as hereditary retinoschisis or juvenile X-linked recessive retinoschisis)Splitting of inner retinal layers, predominantly in the central retinaMost common cause of macular degeneration in young men
  • Acquired retinoschisis (also referred to as adult degenerative retinoschisis)Splitting of outer retinal layers, predominantly in the peripheral retina and most often inferotemporallyTypically occurs in individuals >40 years

EPIDEMIOLOGY

Prevalence

  • X-linked recessive: between 1:30,000 and 1:15,000
  • Acquired: between 1:60 and 1:14 among persons >40 years

ETIOLOGY AND PATHOPHYSIOLOGY

  • X-linked recessiveInheritance of RS1 gene mutation (1)
  • AcquiredNot inheritedSporadic in hyperopic patients

Genetics

  • X-linked recessiveMechanism: Mutation in discoid, in domain of retinoschisin (RS1) gene. Retinoschisin is a 224-amino acid membrane protein involved in cellular adhesion and retinal integrity (1,2).X-linked recessive inheritanceFemale carriers typically with no clinical signsNo male-to-male transmission
  • Acquired

RISK FACTORS

  • X-linked recessiveMale genderPositive family history
  • Acquired

GENERAL PREVENTION

Not applicable to either type of retinoschisis

COMMONLY ASSOCIATED CONDITIONS

  • X-linked recessiveAxial hypermetropiaPosterior staphyloma formation
  • Acquired

DIAGNOSIS

HISTORY

  • X-linked recessiveVariable visual impairment (common)Positive family history
  • AcquiredUsually asymptomatic (3)With advanced disease, may have visual field deficits (4)

PHYSICAL EXAM

  • Visual acuity
  • X-linked recessiveDilated fundus examStellate maculopathy from retinoschisis (1,3)Less commonly, peripheral pigmented demarcation lines (1,3)
  • AcquiredDilated fundus exam (red-free illumination preferred)Dome-shaped schisis cavity with a smooth inner surface and limited retinal mobility or pigmentation (1,3)

DIFFERENTIAL DIAGNOSIS

  • X-linked recessiveX-linked congenital stationary night blindnessTypically associated with myopia Nystagmus is more common.Goldmann-Favre syndromeFoveal schisis with nyctalopia and pigmentary clumpingERG usually extinguishedMacular edemaEtiologies: diabetic retinopathy, intraocular surgery, retinal vein occlusion, uveitis, retinitis pigmentosa, inherited cystoid macular edemaCharacteristic clinical features of primary disease processLeakage seen on fluorescein angiography (FA)Reversible cystic or toxic maculopathyOften a side effect of niacin used for familial hyperlipidemia (1,5)[B]Cysts affecting both outer plexiform and inner nuclear layers but no leakage seen on FA
  • AcquiredRhegmatogenous retinal detachment (flashing lights and floaters followed by progressive loss of visual field)

DIAGNOSTIC TESTS & INTERPRETATION

Initial Tests (lab, imaging)

None for either types of retinoschisis

  • X-linked recessiveDigital fundus photography: for documentation of progression (1,2 and 3)Optical coherence tomography (OCT): foveal schisis (1,2 and 3)
  • AcquiredDigital fundus photography: for documentation of progression (1,2 and 3)OCT (1,2 and 3)

Follow-Up Tests & Special Considerations

  • X-linked recessive: genetic testing for RS1 mutation in men (1,2 and 3)
  • Acquired: none (1,2 and 3)
  • X-linked recessiveDigital fundus photography: for documentation of progression (1,2 and 3)OCT: Foveal schisis (1,2 and 3)Electroretinography (ERG) (rarely used): decreased b-wave amplitudes (1,2 and 3)
  • AcquiredDigital fundus photography: for documentation of progression (1,2 and 3)OCT: smooth surface schisis, usually inferotemporally, with associated retinal vessel sheathing (1,2 and 3)ERG: normal (1,2 and 3)

Test Interpretation

  • X-linked recessive: splitting of nerve fiber layer (1,2 and 3)
  • Acquired: splitting of outer plexiform layer (1,2 and 3)

TREATMENT

GENERAL MEASURES

  • X-linked recessiveRefractive correction, low-vision aids, educational support (1)[B]
  • Acquired: same as listed earlier.

MEDICATION

Currently, no medication is proved to prevent or slow the progression of either type of retinoschisis.

ISSUES FOR REFERRAL

Refer to a retinal specialist if visual symptoms present with either type of retinoschisis.

SURGERY/OTHER PROCEDURES

  • X-linked recessiveFor complicationsVitreous hemorrhage: vitrectomy (5,6)[B]Retinal detachmentVitrectomy with retinopexy and retinal tamponade with or without scleral buckle (5,6)[B]Progressive but without complicationsProgressive vision loss, expansion of macular schisis or peripheral schisis cavity-threatening maculaVitrectomy and retinal tamponade (5,6)[B]
  • Acquired: complicationsRetinal detachmentPars plana vitrectomyLaser retinopexyRetinal tamponadeScleral bucklingEpiretinal membrane: membrane peeling

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

  • X-linked recessiveMonitor visual acuity for any significant changes.Dilated fundus exam for evidence of progression (5,6)[C]
  • Acquired

PATIENT EDUCATION

  • University of Michigan Kellogg Eye Center: http://www.kellogg.umich.edu/patientcare/conditions/retinoschisis.html
  • X-linked recessive: genetic counseling
  • Acquired: Patient to return immediately if symptoms of progressive visual loss occur.

PROGNOSIS

  • X-linked recessiveVariable, based on extent and progression of diseaseVisual function often stable (7,8)
  • AcquiredVariable, based on extent and progression of diseaseSpontaneous regression in 2.3 " 8.8% of patients (7,8)Visual function usually stable (7,8)

COMPLICATIONS

  • X-linked recessiveVitreous hemorrhageRetinal detachment (1)
  • AcquiredRetinal detachmentEpiretinal membrane

REFERENCES

11 Sikkink SK, Biswas S, Parry NR, et al. X-linked retinoschisis: an update. J Med Genet. 2007;44(4):225 " 232.22 Goodwin P. Hereditary retinal disease. Curr Opin Ophthalmol. 2008;19(3):255 " 262.33 Buch H, Vinding T, Nielsen NV. Prevalence and long-term natural course of retinoschisis among elderly individuals: the Copenhagen City Eye Study. Ophthalmology. 2007;114(4):751 " 755.44 Negrao S, Gaitan JR, Flynn HWJr, et al. Optical coherence tomography findings in patients with degenerative retinoschisis and symptomatic retinal detachment. Ophthalmic Surg Lasers Imaging. 2010;1 " 5.55 D 'Amico DJ. Clinical practice. Primary retinal detachment. N Engl J Med. 2008;359(22):2346 " 2354.66 Byer NE. Perspectives on the management of the complications of senile retinoschisis. Eye (Lond). 2002;16(4):359 " 364.77 Yu H, Li T, Luo Y, et al. Long-term outcomes of vitrectomy for progressive X-linked retinoschisis. Am J Ophthalmol. 2012;154(2):394.e2 " 402.e2.88 Watzke RC, Folk JC, Lauer AK. Foveal involvement by acquired retinoschisis: long-term visual outcomes. Retina. 2013;33(3):606 " 612.

ADDITIONAL READING

Ehlers JP, Shah CP. Retinoschisis. The Wills Eye Manual. 5th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2008;279 " 280.

SEE ALSO

Retinal Detachment

CODES

ICD10

  • H33.109 Unspecified retinoschisis, unspecified eye
  • Q14.1 Congenital malformation of retina
  • H33.199 Other retinoschisis and retinal cysts, unspecified eye
  • H33.103 Unspecified retinoschisis, bilateral
  • H33.101 Unspecified retinoschisis, right eye
  • H33.102 Unspecified retinoschisis, left eye
  • H33.192 Other retinoschisis and retinal cysts, left eye
  • H33.193 Other retinoschisis and retinal cysts, bilateral
  • H33.191 Other retinoschisis and retinal cysts, right eye

ICD9

  • 361.10 Retinoschisis, unspecified
  • 743.56 Other retinal changes, congenital
  • 362.73 Vitreoretinal dystrophies

SNOMED

  • Retinoschisis (disorder)
  • Congenital retinoschisis (disorder)
  • Retinoschisis and retinal cysts
  • Juvenile retinoschisis (disorder)

CLINICAL PEARLS

  • An inherited or acquired condition resulting in variable visual impairments or visual field deficits
  • X-linked recessiveVariable clinical course with no proven medical treatmentSurgery is indicated for visually significant complications, such as retinal detachment.For progressive retinoschisis, there may be a role for surgery in the absence of complications.
  • AcquiredUsually a benign finding with no proven medical treatment.Surgery is not indicated unless visually significant complications, such as retinal detachment, are present.