Anterior Chamber Pathology in Alagille Syndrome.
Publication/Presentation Date
10-1-2016
Abstract
BACKGROUND: Alagille syndrome is an autosomal dominant disorder characterized by neonatal cholestasis, characteristic facies, and cardiac abnormalities. Ocular abnormalities include posterior embryotoxon, mosaic pattern of iris stromal hypoplasia, microcornea, optic disc drusen, and pigmentary retinopathy. We present the second report of ocular pathology in two cases of Alagille syndrome.
METHODS: Gross and histologic preparations of four eyes of two patients.
RESULTS: Posterior embryotoxon is seen in both cases, with iris processes extending to the embryotoxon in case 1. Case 1 exhibited distinctly abnormal iris stroma with a prominent cleft separating the anterior and posterior stroma. Lacy vacuolization of the iris pigment epithelium was seen in case 2.
CONCLUSIONS: Alagille syndrome is primarily a hepatic disorder but presents with several distinct ocular pathologic features, most specifically posterior embryotoxon. This and the unusual iris stroma may be caused by improper migration of neural crest cells due to mutation in the
Volume
2
Issue
4
First Page
270
Last Page
275
ISSN
2296-4681
Published In/Presented At
Ho, D. K., Levin, A. V., Anninger, W. V., Piccoli, D. A., & Eagle, R. C., Jr (2016). Anterior Chamber Pathology in Alagille Syndrome. Ocular oncology and pathology, 2(4), 270–275. https://doi.org/10.1159/000446804
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
27843908
Department(s)
Department of Pediatrics
Document Type
Article