[Pseudokeratoconus in trisomy 21 and posterior polymorphous corneal dystrophy].
The authors examined three members of a family with an autosomal dominant trait of posterior polymorphous corneal dystrophy of varying expressivity. The 67-year-old white mother had a visual acuity of 20/30, with only discrete irregularities at the level of Descemet's membrane. The daughter developed bullous keratopathy with polymorphous ring-shaped opacities in the central area of Descemet's membrane early, in her 34th year. The 25-year-old son, who also had Down's syndrome, presented with the clinical symptoms of acute keratoconus. Light microscopy revealed a thickened, multilaminated Descemet's membrane with vesicles, breaks, and dislocation of endothelial cells into the deep stroma. Transmission electron microscopy showed a normal anterior, ribbonlike portion of Descemet's membrane and a fibroblastic differentiation of the corneal endothelial cells.
Lang
G K
GK
Augenklinik mit Poliklinik der Universität Erlangen-Nürnberg.
Holbach
L
L
Schlötzer
U
U
D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology; D003319:Corneal Stroma / Q000473:pathology; D003886:Descemet Membrane / Q000473:pathology; D004314:Down Syndrome / Q000235:genetics*; D004728:Endothelium, Corneal / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007640:Keratoconus / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree
Pseudokeratokonus bei Trisomie 21 und hinterer polymorpher Hornhautdystrophie (HPHD).