Severe Myopia with Unusual Retinal Anomalies and Dandy-Walker Sequence in Two Sibs. A Distinct New Neuro-ocular Disorder

Abstract

We have observed a male and a female, sibs of non-consanguineous parents, affected by severe myopia with characteristic retinal defects and Dandy-Walker variant. The peculiarity of the retinopathy consists of pathological myopia with anomalous vitreal fenestrated membranes in the retinal periphery. We suppose that these associations may configure a new genetic syndrome.

• Dandy-Walker variant
• genetic disease
• myopia
• new genetic syndrome
• retinopathies

Acknowledgments

We would like to thank Dr Brigitte Faas, Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands, Dr Vincenzo Cirigliano, Department of Molecular Genetics, Labco Diagnostics, Londres 28 08029 Barcelona, Spain, and Dr Andrea Elefante, Department of Neuroscience, Universita’ Federico II, Naples, Italy.