A case of X linked Retinoschisis and an approach to inherited retinal degeneration

Title A case of X linked Retinoschisis and an approach to inherited retinal degeneration
Author, Co-Author George White, Allison White
Topic Treatment and Management of Posterior Sgmt Disease
Program Number
Ballroom A-B

Introduction: Hereditary retinal dystrophy X-linked Retinoschisis is a rare disorder that affects approximately 1 in 5,000 to 25,000 men worldwide. This case report demonstrates the complete evaluation, diagnostic and management of this disorder. It included the genetic testing and recruitment in the gene therapy studies at the National Institute of Health

Case report: A 21 year old male presented for blurred vision. He reported some increased blurriness and confusion with color determination with his new career training as an electrician. He claims good night vision. Medical history is unremarkable. Best corrected visual acuity showed 20/30- in the right and 20/60+ in the left. There were minor color vision defects on D15. Visual fields showed a central defect in each eye with the left more significant than the right. Dilated retinal examination showed a large area retinoscheisis in the central retina. OCT testing confirmed large pockets of fluid in the central retina. Retinal consultation included electrodiagnostic testing, ERG, autoflurorescence and genetic testing revealed a diagnosis of Hereditary retinal dystrophy X-linked retinoschisis. Treatment with Dorzolamide was given to reduce fluid in the retina.

Conclusion: This case demonstrated the process of evaluating and managing patients with inherited retinal degeneration. In addition, this case emphasized the integral nature of comprehensive testing of our patients to diagnose unusual cases of uncorrected vision. Correlation of advanced color vision testing, OCT, visual fields, electrodiagnostic testing, retinal consultation genetic patterns and family ancestry helped to diagnose this interesting case.  Ongoing research will be presented as it occurs.



Affiliation of Co-Authors Pennsylvania College of Optometry at Salus University