X-linked Juvenile Retinoschisis

X-linked juvenile retinoschisis is characterized by splitting of the superficial layers of the sensory retina. Most cases demonstrate a stellate or spoke wheel-like maculopathy. Bilateral microcystic-like changes of the macula are shown in OCT studies. 

  • Affects only males
  • Female carriers have normal vision and are normal on ophthalmic examination
  • Age of onset is in the first decade
  • Histopathologically, there is a split between the nerve fiber and ganglion cell layer

Clinical features:

  • Symptoms: decreased central vision (20/25 - 20/50) and slowly progressive
  • Signs:
    • Presence of perifoveal microcystic changes with spoke wheel-like plications of the overlying ILM, often referred to as stellate maculopathy which are better seen on red-free fundus photography
    • Peripheral retinal schisis occurs in 50% of cases
    • The most common location for this peripheral schisis is the inferotemporal quadrant
    • Potential findings at later ages as the condition progresses may include RPE changes. macular hole, retinal dragging with vitreous strands, complicated with vitreous hemorrhage and rhegmatogenous retinal detachment

Ancillary Test:

  • Fluorescein angiographic reveals similar pattern to that of cystoid macular edema, but without leakage of dye in the late phase
  • Visual field testing shows an absolute scotoma that corresponds to the areas of peripheral schisis
  • ERG shows refuced photopic and scotopic b-wave

Management:

  • Observation, since this is a slowly progressive condition where patients maintain their visual acuity for a long period of time
  • Surgical management is necessary if complications such as retinal detachment, vitreous hemorrhage or macular hole should occur