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.

• Authors: Ana Flores-Márquez, Juan Ángel Moreno-Gutiérrez, Susana García-Marcet, Fernando García-Martín, Saturnino Gismero-Moreno, Carlos Rocha-de-Lossada
• Journal: European journal of ophthalmology (Eur J Ophthalmol) Vol. 33 Issue 6 Pg. NP69-NP73 (Nov 2023) ISSN: 1724-6016 [Electronic] United States
• PMID: 36726303 (Publication Type: Journal Article)