[Keratoconus in Alagille syndrome].
We report on a 20 year old white male with growth retardation, secondary hypothyroidism, typical facies, skin lichenification and brachydactylia due to arteriohepatic dysplasia. We found a bilateral keratoconus with corneal scaring but none of the other known ophthalmological findings. A keratoplasty was performed in the right eye. The pathogenesis of the keratoconus is unknown.
Lang
G E
GE
Augenklinik mit Poliklinik, Universität Erlangen-Nürnberg.
Naumann
G O
GO
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D002780:Cholestasis, Intrahepatic / Q000175:diagnosis / Q000235:genetics*; D003315:Cornea / Q000473:pathology; D006801:Humans; D007640:Keratoconus / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D015948:Keratoplasty, Penetrating; D008297:Male; D013577:Syndrome; D014792:Visual Acuity / Q000502:physiology
Keratokonus bei Alagille Syndrom.