Total retinal detachment caused by a KIF11 mutation



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


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.


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.


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



Jana Riedl, Urs Voβmerbäumer, Bernhard Stoffelns, Heike Elflein

Article History


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

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