Bilateral Retinal Venous Occlusion in Atypical Hemolytic-Uremic Syndrome Due to Complement Factor H Mutation

ABSTRACT

Purpose

Atypical hemolytic uremic syndrome (aHUS) is a rare progressive thrombotic microangiopathy caused by overactivation in the alternative complement pathway. A wide spectrum of environmental triggers, such as viruses, vaccination, drugs, pregnancy, neoplasms, transplant, and autoimmune diseases can cause aHUS in genetically susceptible individuals. In this report, the diagnosis and treatment process of aHUS and bilateral retinal venous occlusion (RVO) will be presented.

Methods

Single-case, retrospective management of ophthalmological and systemic manifestations.

Results

A 28-year-old G2P2 female with acute blurred vision and history of acute renal failure. She was diagnosed with preeclampsia in her gestation history. After the laboratory work-up, the diagnosis of aHUS was confirmed. She was treated with eculizumab following 14 days of plasmapheresis. However, her visual acuity was 20/20 on the right and 20/60 on the left at the time of admission. Retinal examination revealed flame-shaped hemorrhages, exudation, and macular edema. The patient was diagnosed with branch RVO in the right eye. Subsequently, central RVO was occurred in the left eye. Intravitreal dexamethasone implant was administered for both eyes since there was no reasonable regression in retinal findings with bevacizumab treatment. She went into remission and her BCVA reached 20/25 during the 12-month follow-up period under the eculizumab therapy.

Conclusion

Diagnosis of aHUS is challenging especially during pregnancy and the postpartum period. Although ocular involvement is quite rare, we described bilateral RVO in aHUS case with homozygous nonsense mutation (c.2134 G > T p.G712). Dexamethasone implant should be considered for the treatment of RVO in aHUS cases.

KEYWORDS:

• Atypical hemolytic uremic syndrome
• complement factor H mutation
• eculizumab
• pregnancy
• retinal venous occlusion
• thrombotic microangiopathy

Authors contributions

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All authors listed on the title page have read the manuscript, attest to the validity and legitimacy of the data and its interpretation and agree to its submission.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Informed consent

Informed consent was obtained and included in the study.

Data availability statement

The data that support the findings of this study are available from the corresponding author, [SE], upon reasonable request.

Additional information

Funding

The author(s) reported there is no funding associated with the work featured in this article.