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Total retinal detachment caused by a KIF11 mutation

Abstract

Purpose

This is a case report of bilateral retinal detachment associated with KIF11 mutation.

Methods

In our university hospital, an 8-week-old patient presented with a potential bilateral congenital cataract, iris atrophy, and iridocorneal contact in the left eye. An examination revealed microcephaly and edema of the dorsa of the feet. The eye examination showed a clear lens in both eyes with a dislodged anterior chamber in the left eye with vessels drawn from the iris to the lens. A retrolental white bilateral mass with vessels was also observed. The MRI and the ultrasound revealed a potential peritoneal hyperplastic glass body. Bilateral retinal detachment was diagnosed during surgery.

Results

Due to the external appearance of the eyes (microcephaly and edema) and the bilateral retinal detachments, a test for KIF11 mutations was requested, and the results were positive.

Conclusions

There is a known association between KIF11 mutation and chorioretinopathy. The bilateral retinal detachment in the present case study has not been previously reported in the literature.

Eur J Ophthalmol 2017; 27(5): e147 - e148

Article Type: CASE REPORT

DOI:10.5301/ejo.5000987

Authors

Jana Riedl, Urs Voβmerbäumer, Bernhard Stoffelns, Heike Elflein

Article History

Disclosures

Financial support: No financial support was received for this submission.
Conflict of interest: None of the authors has conflict of interest with this submission.

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Authors

Affiliations

  • Department of Ophthalmology, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz - Germany

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