Purpose: To report a case of a Henle fiber layer hemorrhage as the initial manifestation of Factor V Leiden disease.
Methods: Case report and literature review.
Results: A healthy 19-year-old patient presented with a spontaneous Henle fiber layer (HFL) hemorrhage. The genetic analysis showed a previously unknown homozygous Factor V Leiden Mutation. No specific treatment was given due to the patient's good visual acuity and favorable prognosis, but the diagnosis of a Factor V Leiden mutation enabled a correct therapeutic management to be followed by the patient.
Conclusion: Advances in eye imaging allow to detect ocular findings that may lead to an early diagnosis and treatment. To the best of our knowledge, this is the first case of a HFL hemorrhage as the initial manifestation of Factor V Leiden disease. Further research is needed to identify the pathways linking these findings.
Keywords: Retinal hemorrhage; factor V; henle fiber layer; retinal vascular occlusion.