Coats disease in a patient with Fanconi anemia: a case report

Eur J Ophthalmol. 2015 Mar-Apr;25(2):182-3. doi: 10.5301/ejo.5000517. Epub 2014 Sep 11.

Abstract

Purpose: To describe the diagnosis and management of Coats disease in a patient with Fanconi anemia.

Methods: Case report.

Results: A 12-year-old girl with Fanconi anemia developed Coats disease. Retinal vasculature anomalies are present in both diseases; however, differential diagnosis in this case could be based on the presence of telangiectasias, which are typical of Coats disease, and the absence of perivascular sheathing, usually described in the uncommon retinal manifestations of Fanconi anemia. The stage 4 Coats disease was managed with intravitreal bevacizumab injections and later pars plana vitrectomy with silicone oil tamponade surgery, which prevented enucleation despite visual loss.

Conclusions: Patients with Fanconi anemia can have retinal vasculature anomalies that are not necessarily related to this systemic anomaly. In this case, the retinal alterations were related to advanced Coats disease stage, which was successfully treated, and enucleation of the affected eye was not necessary.

Publication types

  • Case Reports

MeSH terms

  • Angiogenesis Inhibitors / therapeutic use
  • Antibodies, Monoclonal, Humanized / therapeutic use
  • Bevacizumab
  • Child
  • Combined Modality Therapy
  • Endotamponade
  • Fanconi Anemia / diagnosis*
  • Fanconi Anemia / therapy
  • Female
  • Fluorescein Angiography
  • Humans
  • Intravitreal Injections
  • Retinal Telangiectasis / diagnosis*
  • Retinal Telangiectasis / therapy
  • Retinal Vessels / pathology
  • Silicone Oils
  • Vascular Endothelial Growth Factor A / antagonists & inhibitors
  • Visual Acuity
  • Vitrectomy

Substances

  • Angiogenesis Inhibitors
  • Antibodies, Monoclonal, Humanized
  • Silicone Oils
  • VEGFA protein, human
  • Vascular Endothelial Growth Factor A
  • Bevacizumab