Ophthalmology 1981 Apr;88(4):337-47

Anterior segment and retinal pigmentary abnormalities in arteriohepatic dysplasia

Puklin JE, Riely CA, Simon RM, Cotlier E

Abstract
Arteriohepatic dysplasia (AHD, Alagille's syndrome) is presumed to be one of the
six known familial intrahepatic cholestatic syndromes, all of which present with
neonatal jaundice or failure to thrive, or both. Accurate early diagnosis of the
proper syndrome is important, as arteriohepatic dysplasia has a good prognosis,
whereas the other syndromes usually lead to death in infancy or early adulthood.
Posterior embryotoxon was found in all five of our patients and may be one of
the hallmarks of this syndrome. Axenfeld's anomaly was present in three of five
patients, and retinal pigmentary abnormalities were found in four of five
patients. Variable abnormalities were found in the cardiovascular system, bones,
central nervous system, kidneys, endocrine system, and body habitus. Inheritance
may be autosomal dominant as vertical transmission was documented in one family.
Liver function improves during the first five years of life so that only the
ocular and skeletal signs may be present in adults