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.

Chorioretinal atrophy

Atrophy of the choroid and retinal layers of the fundus.


Total: 3

                      


(per page)
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 report the first case in the literature of chorioretinal atrophy involving the macula in an 11-year-old girl with Alagille syndrome, as examined by optical coherence tomography, and fundus autofluorescence imaging.
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.
Optical coherence tomography and fundus autofluorescence imaging study of chorioretinal atrophy involving the macula in Alagille syndrome.
17717773
FEMALE Middle Aged
[Progressive geographic chorioretinopathy associated with Alagille syndrome].
Bidaguren A, Blanco A, Gibelalde A, Irigoyen C.
Arch Soc Esp Oftalmol. 2007;82(8):513-5.
Although severe visual threat or progressive ocular disease associated with Alagille syndrome have not yet been described, our patient has shown a marked decrease in visual acuity and a clear progression of the chorioretinal atrophy.