Retinoschisis

BASICS

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 retina
- Most 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 inferotemporally
- Typically 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 recessive
- Inheritance of RS1 gene mutation (1)
Acquired
- Not inherited
- Sporadic in hyperopic patients

Genetics

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
Acquired
- Multifactorial

RISK FACTORS

X-linked recessive
- Male gender
- Positive family history
Acquired
- Age >40 years

GENERAL PREVENTION

Not applicable to either type of retinoschisis

COMMONLY ASSOCIATED CONDITIONS

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

DIAGNOSIS

HISTORY

X-linked recessive
- Variable visual impairment (common)
- Positive family history
Acquired
- Usually asymptomatic (3)
- With advanced disease, may have visual field deficits (4)

PHYSICAL EXAM

Visual acuity
X-linked recessive
- Dilated fundus exam
  - Stellate maculopathy from retinoschisis (1,3)
  - Less commonly, peripheral pigmented demarcation lines (1,3)
Acquired
- Dilated 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 recessive
- X-linked congenital stationary night blindness
  - Typically associated with myopia Nystagmus is more common.
- 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)
- Reversible cystic or toxic maculopathy
  - Often 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
Acquired
- Rhegmatogenous 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 recessive
- Digital fundus photography: for documentation of progression (1,2 and 3)
- Optical coherence tomography (OCT): foveal schisis (1,2 and 3)
Acquired
- Digital 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 recessive
- Digital 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)
Acquired
- Digital 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 recessive
- Refractive 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 recessive
- For complications
  - Vitreous hemorrhage: vitrectomy (5,6)[B]
  - Retinal detachment
    - Vitrectomy with retinopexy and retinal tamponade with or without scleral buckle (5,6)[B]
- Progressive but without complications
  - Progressive vision loss, expansion of macular schisis or peripheral schisis cavity-threatening macula
    - Vitrectomy and retinal tamponade (5,6)[B]
Acquired: complications
- Retinal detachment
  - Pars plana vitrectomy
  - Laser retinopexy
  - Retinal tamponade
  - Scleral buckling
- Epiretinal membrane: membrane peeling

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

X-linked recessive
- Monitor visual acuity for any significant changes.
- Dilated fundus exam for evidence of progression (5,6)[C]
Acquired
- Same as above

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 recessive
- Variable, based on extent and progression of disease
- Visual function often stable (7,8)
Acquired
- Variable, based on extent and progression of disease
- Spontaneous regression in 2.3 " 8.8% of patients (7,8)
- Visual function usually stable (7,8)

COMPLICATIONS

X-linked recessive
- Vitreous hemorrhage
- Retinal detachment (1)
Acquired
- Retinal detachment
- Epiretinal 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.

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 recessive
- Variable clinical course with no proven medical treatment
- Surgery 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.
Acquired
- Usually a benign finding with no proven medical treatment.
- Surgery is not indicated unless visually significant complications, such as retinal detachment, are present.

Home

Erectile Dysfunction

Doctor123.org