title: Ocular findings in Walker-Warburg syndrome.
abstract: Ocular symptoms are frequently observed in Walker-Warburg (WWS) and associated syndromes. The majority of patients present with malformations of the anterior segment and severe retinal dysplasia. We report on the findings in a female patient with WWS who died at the age of 9 months. Major ocular findings were: severe iridocorneal malformation, a membrane-like structure of the lens and funnel-shaped retinal dysplasia. The retina presented various grades of differentiation with rosettes and atypical sequences of cells, e.g. ganglion cells intermingled between granular layers. The anterior part of the retina presented as a primitive homogeneous layer with a cell-free space that might be interpreted as the primary optic ventricle. This finding suggests that we are dealing with a primary dysplastic non-attachment rather than a real detachment of the retina in WWS. The malformation of the anterior segment was not typical of the Peters' anomaly, as usually described in WWS, but of Rieger's syndrome.
authors.affiliation: Augenklinik, Westfälische Wilhelms-Universität, Münster, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Gerding
authors.forename: F
authors.initials: F
authors.lastname: Gullotta
authors.forename: K
authors.initials: K
authors.lastname: Kuchelmeister
authors.forename: H
authors.initials: H
authors.lastname: Busse
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000867:Anterior Chamber / Q000002:abnormalities; D001921:Brain / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007223:Infant; D012160:Retina / Q000002:abnormalities; D013577:Syndrome