Walker-Warburg syndrome: congenital neurodysplasia and bilateral retinal folds.
A 2-month-old girl with a history of congenital hydrocephalus presented due to "wandering eyes." Initial eye examination at age 2 months showed response to light and a prominent retinal fold that extended through the macula and made contact with the posterior and inferior temporal lens capsule in each eye. Combined with the patient's neurologic findings, the results of the ocular examination led to the diagnosis of Walker-Warburg syndrome. During 5 years of follow-up, the patient developed progressive cataracts in both eyes but maintained ambulatory vision in the left eye. Walker-Warburg syndrome should be included in the differential diagnosis for pediatric patients with a history of prominent retinal folds.
Berrocal
Audina M
AM
Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami, School of Medicine, Miami, Florida 33136, USA.
Scott
Ingrid U
IU
Flynn
Harry W
HW
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001921:Brain / Q000002:abnormalities*; D004677:Encephalocele / Q000175:diagnosis*; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis*; D007223:Infant; D012160:Retina / Q000002:abnormalities*; D015792:Retinal Dysplasia / Q000175:diagnosis*; D013577:Syndrome