title: Retinal vascular nonperfusion in siblings with Dandy-Walker variant.
abstract: We report the case of a 2-month-old girl with Dandy-Walker variant who presented with strabismus, pathologic myopia measuring -16.00 D in each eye, diffuse chorioretinal atrophy and pigment mottling in the macula of both eyes, and areas of retinal capillary nonperfusion in both eyes. The patient's brother also has Dandy-Walker variant and was found to have bilateral severe myopia, myopic fundi, tilted optic disks with peripapillary atrophy, extensive areas of white without pressure, areas of lattice degeneration, and several chronic-appearing atrophic retinal holes surrounded by pigmentation. We hypothesize that children with Dandy-Walker variant may present with refractive errors such as pathologic myopia and with diverse retinal findings, including retinal ischemia. A lower threshold for ophthalmologic examination may be considered in this population.
authors.affiliation: Department of Ophthalmology, Weill Cornell Medical College, New York, New York.
authors.forename: Irene
authors.initials: I
authors.lastname: Rusu
authors.affiliation: Department of Ophthalmology, Weill Cornell Medical College, New York, New York.
authors.forename: Mrinali Patel
authors.initials: MP
authors.lastname: Gupta
authors.affiliation: Department of Ophthalmology, Weill Cornell Medical College, New York, New York.
authors.forename: Samir N
authors.initials: SN
authors.lastname: Patel
authors.affiliation: Department of Ophthalmology, Weill Cornell Medical College, New York, New York.
authors.forename: Erica
authors.initials: E
authors.lastname: Oltra
authors.affiliation: Department of Ophthalmology, Weill Cornell Medical College, New York, New York; Department of Ophthalmology and Visual Sciences, Illinois Eye and Ear Infirmary, University of Illinois at Chicago, Chicago, Illinois. Electronic address: rvpchan@uic.edu.
authors.forename: R V Paul
authors.initials: RV
authors.lastname: Chan
mesh_terms: D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000209:etiology; D003616:Dandy-Walker Syndrome / Q000150:complications* / Q000175:diagnosis; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D007223:Infant; D007511:Ischemia / Q000175:diagnosis / Q000209:etiology*; D008279:Magnetic Resonance Imaging; D008297:Male; D047728:Myopia, Degenerative / Q000175:diagnosis / Q000209:etiology; D012171:Retinal Vessels / Q000473:pathology*; D035781:Siblings; D013285:Strabismus / Q000175:diagnosis / Q000209:etiology