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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.

Keywords

Familial exudative vitreoretinopathy Mental retardation Microcephaly Total retinal detachment

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References

Ostergaard

Simpson

Mendola

et al.

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.

Am J Hum Genet. 2012;90(2):356–362.

Robitaille

Gillett

LeBlanc

et al.

Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.

JAMA Ophthalmol. 2014;132(12):1393–1399.

Balikova

Robson

Holder

Ostergaard

Mansour

Moore

Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.

Acta Ophthalmol. 2016;94(1):92–98.

Gezginç

Yazıcı

Gök

Prenatal diagnosis of Milroys primary congenital lymphedema.

Taiwan J Obstet Gynecol. 2012;51(2):280–282.

Xiao

Jia

Guo

Zhang

KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.

Br J Ophthalmol. 2016;100(2):278–283.

Finis

Stammen

Joussen

Familiäre exsudative Vitreoretinopathie.

Opthalmologe. 2010;107:683.

Total Retinal Detachment Caused by a KIF11 Mutation