title: Retinal dysplasia of holoprosencephaly.
abstract: Retinal dysplasia occurs in the setting of sporadic and syndromic holoprosencephaly, which often has associated ocular malformations. The pathology of this dysplasia, which includes rosettes, has been previously described. However, its funduscopic findings have not been well documented. The authors present the fundus images of a patient with severe holoprosencephaly with retinal dysplasia and bilateral optic nerve colobomas that resulted in death 2 weeks after birth.
authors.forename: Ian R
authors.initials: IR
authors.lastname: Gorovoy
authors.forename: Noelle
authors.initials: N
authors.lastname: Layer
authors.forename: Alejandra G
authors.initials: AG
authors.lastname: de Alba Campomanes
mesh_terms: D000015:Abnormalities, Multiple; D003103:Coloboma / Q000175:diagnosis*; D017809:Fatal Outcome; D005260:Female; D005865:Gestational Age; D016142:Holoprosencephaly / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009900:Optic Nerve / Q000002:abnormalities*; D015792:Retinal Dysplasia / Q000175:diagnosis*