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.

Pigmentary retinopathy

An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.


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(per page)
PMID (PMCID)
8259273
 MIXED_SAMPLE Infant, Newborn
Ocular anomalies in the alagille syndrome (arteriohepatic dysplasia).
Brodsky MC, Cunniff C.
Ophthalmology. 1993;100(12):1767-74.
The Alagille syndrome (arteriohepatic dysplasia) is a well-recognized multiple malformation syndrome consisting of a paucity of intrahepatic bile bile ducts, peripheral pulmonary artery hypoplasia with variable cardiac abnormalities, cholestatic facies, butterfly-like vertebral arch defects, and variable ocular anomalies, most commonly posterior embryotoxon and pigmentary retinopathy.
8259273
 MIXED_SAMPLE Infant, Newborn
Ocular anomalies in the alagille syndrome (arteriohepatic dysplasia).
Brodsky MC, Cunniff C.
Ophthalmology. 1993;100(12):1767-74.
The Alagille syndrome (arteriohepatic dysplasia) is a well-recognized multiple malformation syndrome consisting of a paucity of intrahepatic bile bile ducts, peripheral pulmonary artery hypoplasia with variable cardiac abnormalities, cholestatic facies, butterfly-like vertebral arch defects, and variable ocular anomalies, most commonly posterior embryotoxon and pigmentary retinopathy.
2240136
 MIXED_SAMPLE Infant, Newborn
Ocular pathologic features of arteriohepatic dysplasia (Alagille's syndrome).
Johnson BL.
Am J Ophthalmol. 1990;110(5):504-12.
Pigmentary retinopathy, degeneration of Bruch's membrane, and prominent lipofuscin deposition in the ciliary muscle noted in one of the patients were not regarded as primary changes of Alagille's syndrome, but were believed to be secondary to acquired deficiency of the fat-soluble vitamins A and E. Early recognition of the ocular changes in arteriohepatic dysplasia is helpful in establishing the proper diagnosis to avoid unnecessary abdominal surgery and institute vitamin therapy.