Related Experiment Video
Updated: Apr 23, 2026
Chronic Salmonella Infection Induced Intestinal Fibrosis
Published on: September 22, 2019
Coats disease in a patient with Fanconi anemia: a case report
Raquel Martín-Sanz1, David Peña, Alberto López-Miguel
1IOBA Eye Institute, Universidad de Valladolid, Valladolid - Spain.
Insights
This case report details a patient with Fanconi anemia who developed Coats disease. Successful treatment of advanced Coats disease prevented eye removal, highlighting distinct retinal anomalies.
Area of Science:
- Ophthalmology
- Genetics
- Oncology
Background:
- Fanconi anemia (FA) is a rare genetic disorder characterized by bone marrow failure and a predisposition to certain cancers.
- Ocular manifestations in FA are uncommon but can include retinal vascular anomalies.
- Coats disease is an idiopathic retinal vascular anomaly characterized by telangiectasias and exudation.
Observation:
- A 12-year-old female with a known diagnosis of Fanconi anemia presented with symptoms suggestive of a retinal vascular disorder.
- Clinical examination revealed retinal telangiectasias and exudation, consistent with Coats disease.
- Differential diagnosis considered the rare retinal findings in Fanconi anemia, but the specific vascular changes favored Coats disease.
Findings:
- The patient was diagnosed with stage 4 Coats disease.
- Treatment involved intravitreal bevacizumab injections followed by pars plana vitrectomy with silicone oil tamponade.
- These interventions successfully managed the Coats disease, preserving the affected eye.
Implications:
- Retinal vascular anomalies in patients with Fanconi anemia may represent unrelated conditions like Coats disease.
- Prompt diagnosis and appropriate management of Coats disease are crucial to prevent severe visual impairment and preserve the eye.
- This case underscores the importance of a comprehensive ophthalmological evaluation in patients with Fanconi anemia presenting with visual changes.
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.
