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Ocular Findings in KNIEST Dysplasia

1Haentzsch A., 2Meier P.,
1Universitätsaugenklinik Leipzig (Leipzig)
2Universität Leipzig, Klinik und Poliklinik für Augenheilkunde (Leipzig)

Purpose: The autosomal dominant inherited KNIEST dysplasia is a rare congenital disease. Patients show a disproportionate short-stature. The associated ocular findings are vitreoretinal degeneration with retinal detachment, early cataract and myopia.
Patient and Follow-up: A 7-year-old-girl was referred to our clinic because of retinal detachment in both eyes. She showed the full clinical aspect of the KNIEST dysplasia with a disproportionate short-stature, joint and face malformation as well as conductive hearing loss. The first examination revealed in the right eye a total retinal detachment with multiple postequatorial retinal tears and a mild cataract. The left eye showed a peripheral retinal detachment with a temporal defect (tear), peripheral retinal degeneration, retinal changes caused by myopia and also a mild cataract. Both eyes where treated with pars plana vitrectomy, cerclage and silicone oil tamponade within a week. The visual acuity reached 0.16. Within 3 months both eyes developed severe cataract and therefore lensectomy was performed. At our last examination we found a relapse of retinal detachment caused by PVR (proliferative vitreoretinopathy) in the right eye so further surgery will be necessary.
Conclusions: Our case report demonstrate the severe ocular changes that are associated with the KNIEST dysplasia which occur in the early childhood. Therefore a regular investigation is important that early defects without symptoms like peripheral retinal degeneration or detachment can be found and treated. Therefore, funduscopic examination plays an important role so peripheral retinal degeneration without symptoms and retinal detachment can be detected immediately.