J Korean Ophthalmol Soc > Volume 60(12); 2019 > Article
Journal of the Korean Ophthalmological Society 2019;60(12):1339-1343.
DOI: https://doi.org/10.3341/jkos.2019.60.12.1339    Published online December 15, 2019.
Hemophilia A in a Female Patient with Recurrent Vitreous Hemorrhage.
Hyun Joon Kim, Meong Sik Nam, Hun Ku Choo, Soo Han Kim
Department of Ophthalmology, Yonsei University Wonju College of Medicine, Wonju, Korea. Dingo84@yonsei.ac.kr
반복적인 유리체출혈로 진단한 여성 혈우병
김현준 · 남명식 · 추헌구 · 김수한
연세대학교 원주의과대학 안과학교실
Correspondence:  Han Kim, MD, PhD
Email: Dingo84@yonsei.ac.kr
Received: 20 June 2019   • Revised: 25 July 2019   • Accepted: 29 November 2019
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.
Key Words: Coaguation factor VIII;Hemophilia A;Vitreous hemorrhage


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