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Congenital X-Linked Retinoschisis: An Updated Clinical Review

Prethy Rao1, Vaidehi S Dedania1,2, Kimberly A Drenser1,3

  • 1Associated Retinal Consultants, Royal Oak, Michigan.

Asia-Pacific Journal of Ophthalmology (Philadelphia, Pa.)
|April 11, 2018
PubMed

Insights

Congenital X-linked retinoschisis (CXLRS) is a retinal degeneration with varied phenotypes. While some cases are stable, others progress, necessitating advanced treatments like genetic therapies and complex vitreoretinal surgery.

Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Degeneration

Background:

  • Congenital X-linked retinoschisis (CXLRS) is an inherited retinal disorder.
  • It is characterized by splitting of the retina's superficial layers.
  • CXLRS presents with four distinct clinical phenotypes: foveal, foveolamellar, complex, and foveoperipheral.

Purpose of the Study:

  • To provide an updated clinical review of CXLRS in pediatric patients.
  • To discuss pathophysiology, disease progression, and current treatment strategies.
  • To highlight recent advances and future directions in CXLRS management.

Main Methods:

  • Review of current literature on CXLRS.
  • Analysis of clinical classifications and progression patterns.
  • Evaluation of existing and emerging therapeutic interventions.

Main Results:

  • CXLRS exhibits diverse phenotypes, with most retinoschisis cavities remaining stable.
  • A subset of patients experience progression, leading to retinal detachments requiring intervention.
  • Current medical therapies are limited, including carbonic anhydrase and laser retinopexy.

Conclusions:

  • Genetic-based clinical trials targeting the retinoschisis gene show promise.
  • Vitreoretinal surgical approaches are complex and individualized.
  • Further research and therapeutic advancements are crucial for improving CXLRS outcomes.

Keywords:
congenital X-linked retinoschisis

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