Article
Umbilicatio lentis in Pena-Shokeir Syndrome: first report on histopathologic findings
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Published: | September 22, 2004 |
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Outline
Text
Objective
Localized indentations of the posterior surface of the lens, Umbilicationes lentis, are extremely rare. Their histologic correlation remained uncharacterised so far. We describe the ophthalmopathologic findings in two eyes of two stillborns (32nd and 34th week of gestation respec-tively) with umbilicated lenses in Pena-Shokeir-syndrome (familial akinesia-hypokinesia sequence).
Methods
Light and electron microscopy.
Results
Both lenses revealed a macroscopically visible central indendation of their posterior poles. By light microscopy, the anterior and posterior cortex of the lens showed formation of vacuolated bladder cells, the lens epithelium reached the equatorial region. At the posterior pole, hydropically swollen lens fibers resulted in a disturbance of the regular lens fibre architecture. Due to focal detachment of the posterior lens capsule, the subcapsular space was filled with amorphous degenerated lens proteins. Adjacent to the posterior capsule, a delicate hyaloid membrane could be observed without any evidence of persisting tunica vasculosa lentis. Electron microscopy showed swollen lens fibers at the posterior pole with irregular cell shape and variable cytoplasmatic density as well as pronounced vacuolation of the cytoplasm. Advanced breakdown of lens fibers with formation of Morgagnian droplets could be focally observed. The lens fibers in the nucleus showed a regular architecture, but focally complex interdigitations between adjacent fiber cells.
Conclusions
The presented histopathologic findings appear to be non-specific. Mechanical traction by a persisting tunica vasculosa lentis as a possible cause for this rare malformation of the lens could not be proven.