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CHRONIC PEDIATRIC RETINAL DETACHMENT WITH MULTIPLE MACROCYSTS.

Venkatkrish M Kasetty1, Kaitlin R Regan2, Jennifer Aye1

  • 1Department of Ophthalmology, Henry Ford Health System, Detroit, Michigan; and.

Retinal Cases & Brief Reports
|August 16, 2022
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Summary
This summary is machine-generated.

This study details a pediatric retinal detachment case with multiple macrocysts, successfully treated with scleral buckling and other surgical methods. The findings highlight a link between retinal macrocysts and Stickler syndrome in children.

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Area of Science:

  • Ophthalmology
  • Genetics

Background:

  • Chronic pediatric retinal detachment with multiple macrocysts is rare.
  • Stickler syndrome is associated with various ocular abnormalities, including retinal detachment.

Approach:

  • This case report utilized fundus photography and optical coherence tomography (OCT) for diagnosis.
  • Surgical management involved scleral buckling, subretinal fluid drainage, cryotherapy, and sulfur hexafluoride (SF6) tamponade.

Key Points:

  • An 11-year-old boy with Stickler syndrome presented with chronic rhegmatogenous retinal detachment and multiple peripheral macrocysts, impacting visual acuity.
  • Successful surgical repair led to retinal reattachment and improved vision, with OCT showing ellipsoid zone loss.
  • Genetic testing confirmed a heterozygous dominant COL11A1 mutation, linking the condition to Stickler syndrome.

Conclusions:

  • This is the first reported case of chronic retinal detachment with multiple peripheral macrocysts in a pediatric patient with Stickler syndrome.
  • Further research is warranted to understand the etiology and clinical significance of retinal macrocysts in pediatric populations.