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

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.

• Authors: Raquel Martín-Sanz, David Peña, Alberto López-Miguel, María B Coco-Martín, Hermenegildo González-García, Francisco J Álvarez-Guisasola, José C Pastor
• Journal: European journal of ophthalmology (Eur J Ophthalmol) 2015 Mar-Apr Vol. 25 Issue 2 Pg. 182-3 ISSN: 1724-6016 [Electronic] United States
• PMID: 25264118 (Publication Type: Case Reports, Journal Article)

Chemical References

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

Topics

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