J Korean Ophthalmol Soc.  2019 Dec;60(12):1339-1343. 10.3341/jkos.2019.60.12.1339.

Hemophilia A in a Female Patient with Recurrent Vitreous Hemorrhage

• Kim HJ
• Nam MS
• Choo HK
• Kim SH

• KMID: 2466193
• DOI: http://doi.org/10.3341/jkos.2019.60.12.1339

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.

Keyword

Coaguation factor VIII; Hemophilia A; Vitreous hemorrhage

MeSH Terms

Blood Coagulation Factors
Cataract
Exons
Female*
Hemophilia A*
Hemorrhage
Humans
Hyphema
Microscopy
Middle Aged
Mutation, Missense
Rare Diseases
Retinal Perforations
Sequence Analysis
Slit Lamp
Vitrectomy
Vitreous Hemorrhage*
Blood Coagulation Factors

Figure

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  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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