Alagille syndrome

A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.

Visual loss

Loss of visual acuity (implying that vision was better at a certain timepoint in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).


合計: 1

                      


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PMID (PMCID)
16673137
MALE Child
Alagille syndrome and optic pit.
Fea A, Grosso A, Rabbione M, Grignolo F.
Graefes Arch Clin Exp Ophthalmol. 2007;245(2):315-7.
A male patient with Alagille syndrome was referred from the pediatric hepatology department for investigation of visual loss in the right eye.