Henle fiber layer hemorrhage as the first manifestation of factor V Leiden homozygous mutation

Abstract

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.