Severe Myopia with Unusual Retinal Anomalies and Dandy-Walker Sequence in Two Sibs. A Distinct New Neuro-ocular Disorder. (28th January 2013)

• Record Type: Journal Article
• Authors: de Crecchio, Giuseppe; Cennamo, Gilda; de Leeuw, Nicole; Ventruto, Maria Luisa; Lonardo, Maria Concetta; Friso, Patrizia; Ventruto, Valerio
• Is Part Of: Ophthalmic genetics. Volume 34:Number 4(2013:Dec.)
• Page Start: 254
• Page End: 257
• Publication Date: 2013-01-28
• Subjects: Dandy-Walker variant -- genetic disease -- myopia -- new genetic syndrome -- retinopathies; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.3109/13816810.2013.763992
• Languages: English
• ISSNs: 1381-6810

Abstract

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.