Macular Hole-Related Retinal Detachment in Children with Knobloch Syndrome

Ophthalmol Retina. 2020 May;4(5):498-503. doi: 10.1016/j.oret.2019.12.004. Epub 2019 Dec 12.


Purpose: To describe the findings and the management of macular hole (MH)-related retinal detachment (RD) in children with Knobloch syndrome.

Design: Retrospective interventional case series.

Participants: Patients with Knobloch syndrome who presented with MH-related RD.

Methods: Retrospective chart review of patients with Knobloch syndrome who presented with MH-related RD from January 2012 to December 2018. Interventions included pars plana vitrectomy and silicone oil tamponade with or without scleral buckle, drainage retinotomy, or relaxing retinectomy.

Main outcome measures: MH characteristics and surgical anatomical outcome.

Results: The study included 9 eyes of 5 patients (age range 2 months to 5 years; median age 5.5 months). Presenting symptoms were poor fixation and nystagmus. The fellow eye of 1 patient had RD due to peripheral breaks. The MH was clinically visible in 8 eyes and detected only by OCT in 1 eye. The RD was shallow and extended to the anterior equator in 7 eyes and localized to a punched-out atrophic lesion in 1 eye. Seven eyes underwent surgical repair. At the last follow-up examination (follow-up range 11 to 42 months; mean 24 months, standard deviation 11.8 months), retinal reattachment with MH closure was achieved in 5 eyes along with marked improvement in fixation.

Conclusion: Patients with Knobloch syndrome may develop MH-related RD as early as infancy. The condition may be easily overlooked in children but should be suspected in the setting of high myopia, vitreoretinal degeneration, and encephalocele.

MeSH terms

  • Child, Preschool
  • Encephalocele / complications*
  • Encephalocele / diagnosis
  • Endotamponade / methods*
  • Female
  • Humans
  • Infant
  • Male
  • Retinal Degeneration / complications*
  • Retinal Degeneration / diagnosis
  • Retinal Detachment / complications
  • Retinal Detachment / congenital*
  • Retinal Detachment / diagnosis
  • Retinal Detachment / etiology*
  • Retinal Detachment / surgery
  • Retrospective Studies
  • Silicone Oils / administration & dosage*
  • Tomography, Optical Coherence / methods
  • Visual Acuity*
  • Vitrectomy / methods*


  • Silicone Oils

Supplementary concepts

  • Knobloch syndrome