6533b835fe1ef96bd129f583
RESEARCH PRODUCT
Total retinal detachment caused by a KIF11 mutation.
Heike M. ElfleinJana C RiedlUrs VoβmerbäumerBernhard M. Stoffelnssubject
Microcephalymedicine.medical_specialtyDNA Mutational AnalysisKinesinsRetina03 medical and health sciences0302 clinical medicineOphthalmologyDNA Mutational AnalysismedicineTotal retinal detachmentHumans030219 obstetrics & reproductive medicinemedicine.diagnostic_testbusiness.industryInfant NewbornRetinal DetachmentRetinal detachmentMagnetic resonance imagingGeneral Medicinemedicine.diseaseUniversity hospitalMagnetic Resonance ImagingOphthalmologyMutation (genetic algorithm)Mutation030221 ophthalmology & optometryFamilial exudative vitreoretinopathybusinessdescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2017-05-01 | European journal of ophthalmology |