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.

Retinal degeneration

A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.


合計: 1

                       


（表示件数）
PMID (PMCID)
23055661
(3460705)
 OTHER
Optical coherence tomography and fundus autofluorescence imaging study of chorioretinal atrophy involving the macula in Alagille syndrome.
Makino S, Ohkubo Y, Tampo H.
Clin Ophthalmol. 2012;6:1445-8.
We suggest that transient hypovitaminosis due to Alagille syndrome early in life might contribute to the retinal degeneration seen in this case.