OCULAR FINDINGS IN FRYNS SYNDROME

97th DOG Annual Meeting 1999

P649
OCULAR FINDINGS IN FRYNS SYNDROME

C. Cursiefen, U. Schlötzer-Schrehardt, L.M. Holbach, M. Vieth*, M. Stolte*

Introduction: Fryns syndrome is a multiple congenital anomaly syndrome with Dandy-Walker malformation, abnormal face (cleft palate), diaphragmatic hernia, lung hypoplasia, distal limb anomalies and polyhydramnios being characteristic features. The prevalence is about 0.7 per 10,000 births. Reported ocular features include microphthalmus, "cloudy cornea", irregularities of Bowman's layer, thickened posterior lens capsule and retinal dysplasia.

Case report: We report the ocular histopathologic findings in a male fetus with Fryns syndrome stillborn in 26th week of gestation.

Results: In addition to already known features, a congenital cortical cataract was found. Electron microscopy demonstrated corneal keratocyte degeneration with dilated endoplasmic reticulum as a potential pathologic correlate of the typical "cloudy cornea" in Fryns syndrome.

Conclusions: Congenital cataract may be associated with Fryns syndrome and newborn survivors therefore should be examined for cataract to prevent amblyopia.

Augenklinik mit Poliklinik, Universität Erlangen-Nürnberg, Schwabachanlage 6, D-91054 Erlangen;* Institut für Pathologie, Klinikum Bayreuth, D-95440 Bayreuth

Back