Severe myopia with unusual retinal anomalies and Dandy-Walker sequence in two sibs. A distinct new neuro-ocular disorder.
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.
Dipartimento di Oculistica, Università Federico II , Naples , Italy .
Giuseppe
G
de Crecchio
Gilda
G
Cennamo
Nicole
N
de Leeuw
Maria Luisa
ML
Ventruto
Maria Concetta
MC
Lonardo
Patrizia
P
Friso
Valerio
V
Ventruto
D000328:Adult; D003616:Dandy-Walker Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005124:Eye Abnormalities / Q000150:complications* / Q000175:diagnosis; D005260:Female; D020234:Gait Ataxia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D047728:Myopia, Degenerative / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009759:Nystagmus, Pathologic / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D012160:Retina / Q000002:abnormalities*; D035781:Siblings