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Purpose <p>Stickler syndrome represents a group of rare, inherited genetic disorders and is the leading cause of inherited retinal detachment (RD). This study aimed to examine the ocular clinical characteristics and compare the surgical outcomes of Stickler syndrome.</p> Methods <p>This single-center, retrospective study included 86 patients diagnosed with Stickler syndrome (58 genetically confirmed) between 2012 and 2024. Patients with RD underwent one of two surgical procedures, and their anatomical and functional outcomes were compared. Patients without RD underwent ora serrata and peripheral retinal screening, with 360° prophylactic laser therapy applied to high-risk eyes exhibiting pathology.</p> Results <p>The pars plana vitrectomy (PPV) group exhibited more severe baseline clinical characteristics than the scleral buckle (SB) group. After surgery, the two groups showed no statistically significant differences in any outcomes except anatomical success rate and best-corrected visual acuity (BCVA). Preoperative BCVA, the presence of cataract, RD extent and status, proliferative vitreoretinopathy (PVR) grade, and silicone oil tamponade were significantly associated with worse postoperative BCVA. Patients at high risk of RD underwent ora serrata and peripheral retina screening, and 36 eyes received prophylactic laser treatment. Preoperative retinal breaks and ora serrata dialysis were independent risk factors for post-laser RD.</p> Conclusion <p>Stickler syndrome is a progressive disorder associated with a high risk of RD. Early diagnosis and regular surveillance are crucial for initiating timely intervention. Further research is needed to understand the pathogenesis of Stickler syndrome better, develop more effective prophylactic and surgical strategies, and improve outcomes for affected individuals.</p>

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Ocular clinical characteristics and surgical outcomes of patients with stickler syndrome

  • 期刊论文

  • 发表日期：

    2026年5月18日

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  • Yuan Yang,
  • Xu Gao,
  • Xuerui Zhang,
  • Haodong Xiao,
  • Zupeng Lu,
  • Miaomiao Liu,
  • Huanyu Liu,
  • Wenting Zhang,
  • Jiawei Yin,
  • Mengxiao Wu,
  • Shipeng Guo,
  • Mingyang Wang,
  • Yufan Yang,
  • Haonan Ma,
  • Xiang Zhang,
  • Huazhang Feng,
  • Jie Peng,
  • Peiquan Zhao

摘要

Purpose

Stickler syndrome represents a group of rare, inherited genetic disorders and is the leading cause of inherited retinal detachment (RD). This study aimed to examine the ocular clinical characteristics and compare the surgical outcomes of Stickler syndrome.

Methods

This single-center, retrospective study included 86 patients diagnosed with Stickler syndrome (58 genetically confirmed) between 2012 and 2024. Patients with RD underwent one of two surgical procedures, and their anatomical and functional outcomes were compared. Patients without RD underwent ora serrata and peripheral retinal screening, with 360° prophylactic laser therapy applied to high-risk eyes exhibiting pathology.

Results

The pars plana vitrectomy (PPV) group exhibited more severe baseline clinical characteristics than the scleral buckle (SB) group. After surgery, the two groups showed no statistically significant differences in any outcomes except anatomical success rate and best-corrected visual acuity (BCVA). Preoperative BCVA, the presence of cataract, RD extent and status, proliferative vitreoretinopathy (PVR) grade, and silicone oil tamponade were significantly associated with worse postoperative BCVA. Patients at high risk of RD underwent ora serrata and peripheral retina screening, and 36 eyes received prophylactic laser treatment. Preoperative retinal breaks and ora serrata dialysis were independent risk factors for post-laser RD.

Conclusion

Stickler syndrome is a progressive disorder associated with a high risk of RD. Early diagnosis and regular surveillance are crucial for initiating timely intervention. Further research is needed to understand the pathogenesis of Stickler syndrome better, develop more effective prophylactic and surgical strategies, and improve outcomes for affected individuals.