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Kim, Nam, Choo, and Kim: Hemophilia A in a Female Patient with Recurrent Vitreous Hemorrhage
Case Report

Journal of the Korean Ophthalmological Society 2019; 60(12): 1339-1343.

Published online: 17 December 2019

DOI: https://doi.org/10.3341/jkos.2019.60.12.1339

Hemophilia A in a Female Patient with Recurrent Vitreous Hemorrhage

Hyun Joon Kim, MD, Meong Sik Nam, MD, Hun Ku Choo, MD, PhD, Soo Han Kim, MD, PhD

Department of Ophthalmology, Yonsei University Wonju College of Medicine, Wonju, Korea.

Address reprint requests to Soo Han Kim, MD, PhD. Department of Ophthalmology, Wonju Severance Christian Hospital, #20 Ilsan-ro, Wonju 20426, Korea. Tel: 82-33-741-1346, Fax: 82-33-741-0460, Dingo84@yonsei.ac.kr

Received 20 June 2019       Revised 25 July 2019       Accepted 29 November 2019

©2019 The Korean Ophthalmological Society

The Korean Ophthalmological Society

(open-access):

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

Keywords: Coaguation factor VIII, Hemophilia A, Vitreous hemorrhage

Figures and Tables

Figure 1

Fundus photo examination. At initial visit. OD = oculus dexter; R= right; OS = oculus sinister; L = left.

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Figure 2

Fundus photo examination. After 1st vitrectomy (1 day). OD = oculus dexter; R= right; OS = oculus sinister; L = left.

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Figure 3

Fundus photo examination OCT. (A) After vitrectomy (2 months). (B) After 2nd vitrectomy (1 year). OD = oculus dexter; R= right; OS = oculus sinister; L = left; OCT = optical coherence tomography.

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Figure 4

Genetic sequencing of patient. Gene of F8. CDS = coding sequence; UTR = untranslated regiion; HGMD = Human Gene Mutation Database; CHAMP = The Chip Analysis Methylation Pipeline.

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Notes

Conflicts of Interest The authors have no conflicts to disclose.

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