Neuro-Ocular Vasculopathy Associated with Fanconi Anemia: A Clinical-Radiologic Phenotypic Case Series
Abstract
Objective: To characterize the clinical, radiological, and pathological features of Neuro-Ocular Vasculopathy Associated with Fanconi Anemia (NOVA-FA).
Methods: Six patients with FA and neurological symptoms were phenotyped using retrospective chart review of clinical notes, neuroimaging, fluorescein angiogram, CSF analysis, and advanced research techniques including extensive infectious testing. Biopsies were reviewed in two patients.
Results: NOVA-FA is defined by neurological symptoms, retinal vasculopathy, accumulation of punctate cerebellar lesions and/or large mass-like lesions with surrounding vasogenic edema. Histopathology showed vasculopathy without inflammation. Treatments with immunosuppressants appeared largely ineffective. Imaging and pathology suggest a non-inflammatory small vessel vasculopathy as the primary pathology.
Interpretation: NOVA-FA is a recently identified condition that affects a subset of patients with FA and results in significant disability, including death. The etiology remains unknown, although the condition mimics features of the syndrome “retinal vasculopathy and cerebral leukodystrophy” which is due to dysfunction in DNA repair mechanisms. There is currently no known effective treatment.
Key messages:
What is already known on this topic: Fanconi anemia is an inherited DNA-repair disorder, and only scattered case reports and small series have described an acquired neurological and ocular condition in a subset of these patients, and often…
How strong is the evidence?
Evidence Hub reads this as a case series, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
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