Paediatric Ophthalmology Strabismus Optics and Refraction Intraocular and Orbital Tumors Retina and Vitreous Neuro-Ophthalmology Cornea and External Disease Uveitis Glaucoma Orbit and Oculoplastics

This rare case uploaded by Mr Armin Moradi . Case content generously contributed by Dr. Panos Christakis at University Health Network, Toronto, ON. .

Clinical History

57yo male presents with progressively decreasing visual acuity over many year (since he was a teenager). VA 20/200. No late leakage was noted on FA. B-wave loss on scotopic, non-attenuated flash. Family history demonstrated a brother with ?similar issues with sight who is on an unknown eye drop.

Q What is the differential diagnosis? (one per line)

The differential diagnosis is as follows:

  • Alport's syndrome
  • Juvenile X-linked Retinoschisis
  • CME of any etiology
  • Goldmann-Favre
  • Autosomal dominant and recessive schisis
  • Wagner syndrome
  • Eales disease
  • Degenerative retinoschisis

Q What further investigations would you order? (one per line)

The following investigation results are available:

No further investigations were done for this case

Q What is the most likely or definitive diagnosis?

The accepted diagnosis is Juvenile X-linked Retinoschisis.

Q What is the management plan for this condition? (one per line)

The management of this condition is as follows:

  • Genetic counseling
  • CAIs have shown benefit in reducing CME
  • Gene therapy with intra-ocular RS1 is in clinical trials

OCT is pathomneumonic for XLRS. Note that fundus and retina exam were normal. Family history is also important in diagnosis in this case.

OMIM #312700 Ophthalmology by Yanoff and Duker 4th ed, pages 509-511