Hemophilia A in a Female Patient with Recurrent Vitreous Hemorrhage

ABSTRACT

PURPOSE@#To report a case of recurrent intraocular hemorrhage due to type A hemophilia in a female patient without any previous medical history.CASE SUMMARY: A 51-year-old female patient without any previous medical history was referred to our clinic due to blurred vision in her left eye. Slit lamp microscopy of the anterior segment was nonspecific. Fundus examination revealed vitreous hemorrhage with retinal tear in her left eye. Vitrectomy and cataract surgery were performed. One day after surgery, hyphema and vitreous hemorrhage recurred. A coagulation disorder was suspected and further serological evaluation was conducted. Coagulation factor analyses showed that the activity of coagulation factors 8 and 12 decreased to 25% and 47%, respectively. Genetic sequence analyses were conducted, and a missense mutation of C6724G> A] was found in exon 25, and type A hemophilia was confirmed.@*CONCLUSIONS@#In patients who tend to show persistent bleeding even after proper treatment, hematological evaluation including coagulation factor assays, and the possibility of rare diseases such as hemophilia should be considered.