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.

• Authors: Giuseppe de Crecchio, Gilda Cennamo, Nicole de Leeuw, Maria Luisa Ventruto, Maria Concetta Lonardo, Patrizia Friso, Valerio Ventruto
• Journal: Ophthalmic genetics (Ophthalmic Genet) Vol. 34 Issue 4 Pg. 254-7 (Dec 2013) ISSN: 1744-5094 [Electronic] England
• PMID: 23362847 (Publication Type: Case Reports, Journal Article)

Topics

• Adult
• Dandy-Walker Syndrome (complications, diagnosis, genetics)
• Eye Abnormalities (complications, diagnosis)
• Female
• Gait Ataxia (complications, diagnosis, genetics)
• Humans
• Magnetic Resonance Imaging
• Male
• Myopia, Degenerative (complications, diagnosis, genetics)
• Nystagmus, Pathologic (complications, diagnosis, genetics)
• Retina (abnormalities)
• Siblings