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Ophthalmic Genet. 2013 Dec;34(4):254-7. doi: 10.3109/13816810.2013.763992. Epub 2013 Jan 30.

Severe myopia with unusual retinal anomalies and Dandy-Walker sequence in two sibs. A distinct new neuro-ocular disorder.

Author information

1
Dipartimento di Oculistica, Università Federico II , Naples , Italy .

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.

PMID:
23362847
DOI:
10.3109/13816810.2013.763992
[Indexed for MEDLINE]

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