Stickler and Wagner Syndrome in African Americans

Ophthalmic Surg Lasers Imaging Retina. 2023 Feb;54(2):97-101. doi: 10.3928/23258160-20221118-01. Epub 2023 Feb 1.

Abstract

Background: Stickler (STL) and Wagner (WGN) syndromes are rare inherited vitreoretinopathies associated with retinal detachments (RD). There is a paucity of case reports describing these diseases in African American patients.

Methods: An IRB-approved, retrospective chart review of African American patients with genetically proven ocular-only STL or WGN was performed, and 6 patients were identified.

Results: Three patients had a COL2A1 mutation, two had a COL11A1 mutation, and one had a VCAN mutation. None had Pierre Robin facies. All were myopes with lattice degeneration and five had RD. Three underwent RD repair with vitrectomy (PPV), scleral buckle (SB), endolaser (EL), and silicone oil (SO). Two received laser retinopexy for localized RD and one received a prophylactic SB with 360° peripheral laser retinopexy.

Conclusion: STL and WGN should be considered in myopic African American patients with lattice degeneration, giant retinal tears, abnormal vitreous, or spontaneous RD. Prophylactic laser treatment and aggressive surgical treatment of RD should be considered. [Ophthalmic Surg Lasers Imaging Retina 2023;54:97-101.].

MeSH terms

  • Black or African American
  • Humans
  • Myopia* / complications
  • Myopia* / genetics
  • Retinal Degeneration* / complications
  • Retinal Detachment* / genetics
  • Retinal Detachment* / surgery
  • Retrospective Studies
  • Scleral Buckling
  • Vitrectomy / methods

Supplementary concepts

  • Hyaloideoretinal degeneration of Wagner