Ocular abnormalities in Alagille syndrome11None of the authors has any commercial interest arising from the findings presented in this article.

Hingorani, Melanie; Nischal, Ken K.; Davies, A.C.; Bentley, Christopher; Vivian, Anthony J.; Baker, Alastair; Mieli‐Vergani, Giorgina; Bird, Alan C.; Aclimandos, Wagih

doi:10.1016/s0161-6420(99)90072-6

Cited by 146 publications

(55 citation statements)

References 33 publications

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“…Glaucoma is not a manifestation of posterior embryotoxon in Alagille syndrome. Posterior embryotoxon occurs in 95% of patients with Alagille syndrome, far greater than the general population (8-15%) [7]. Both patients in this report had posterior embryotoxon, but only one had iris processes to the embryotoxon (fig.…”

Section: Discussionmentioning

confidence: 66%

“…Alagille syndrome, a familial autosomal dominant disorder, most commonly presents with neonatal cholestasis caused by intrahepatic biliary hypoplasia [1,7]. Hepatic and cardiac abnormalities are the most common causes of death, as seen in our cases.…”

Section: Discussionmentioning

confidence: 81%

“…Hepatic and cardiac abnormalities are the most common causes of death, as seen in our cases. Many children with Alagille syndrome, however, can do well with long-term survival following appropriate intervention, in particular surgery for the liver disorder [7]. …”

Section: Discussionmentioning

confidence: 99%

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Anterior Chamber Pathology in Alagille Syndrome

Levin

Anninger

et al. 2016

Ocul Oncol Pathol

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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 Jagged 1 gene that causes Alagille syndrome. Patients with Alagille syndrome rarely present to ocular autopsy. Pathology findings may help us better understand the pathophysiology of the ocular abnormalities in this disorder.

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Section: Discussionmentioning

confidence: 66%

Section: Discussionmentioning

confidence: 81%

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Anterior Chamber Pathology in Alagille Syndrome

Levin

Anninger

et al. 2016

Ocul Oncol Pathol

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“…It is a well-recognized multisystem disorder that includes paucity of intrahepatic biliary ducts, cholestatic facies, peripheral pulmonary artery hypoplasia or stenosis, butterfly-like vertebral arch defects, and variable ocular defects. These involve posterior embryotoxon (95%), iris abnormalities (45%), diffuse fundus hypopigmentation (57%), speckling of retinal pigment epithelium (33%), and optic disc anomalies (76%) [5]. Obliquely oriented optic disc, temporal crescent, segmental swelling and pallor, optic nerve hypoplasia, tilted disc, optic disc drusen, anomalous vasculature, and optic pit were described in previous cases [5,6,7].…”

Section: Discussionmentioning

confidence: 86%

“…These involve posterior embryotoxon (95%), iris abnormalities (45%), diffuse fundus hypopigmentation (57%), speckling of retinal pigment epithelium (33%), and optic disc anomalies (76%) [5]. Obliquely oriented optic disc, temporal crescent, segmental swelling and pallor, optic nerve hypoplasia, tilted disc, optic disc drusen, anomalous vasculature, and optic pit were described in previous cases [5,6,7]. To our knowledge, there are no cases in the literature presenting an association of myelinated retinal nerve fibers with Alagille syndrome.…”

Section: Discussionmentioning

confidence: 99%

Alagille Syndrome Associated with Myelinated Retinal Nerve Fibers

Voykov

Guenova²,

Sturm

et al. 2009

Ophthalmologica

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Purpose: Alagille syndrome is frequently associated with optic disc anomalies. This is the first report of a patient with Alagille syndrome and myelinated retinal nerve fibers. Methods: A 5-year-old female patient was referred to the Centre for Ophthalmology before a liver transplantation. Ocular examinations including slit lamp examination and funduscopy as well as anterior segment and fundus images were performed. Results: We observed myelinated retinal nerve fibers in both eyes of a 5-year-old female patient with Alagille syndrome. Conclusions: A broad spectrum of ocular anomalies is associated with Alagille syndrome. To our knowledge, this is the first reported case of myelinated retinal nerve fibers in a patient with Alagille syndrome.

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A lagille Syndrome

Kamath¹,

Krantz²

2005

Management of Genetic Syndromes

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Alagille syndrome, also known as syndromic bile duct paucity or arteriohepatic dysplasia, is a multisystem, autosomal‐dominant, developmental disorder with highly variable expression. It is characterized by abnormalities of the liver, heart, eye, skeleton, and a characteristic facial appearance. The kidney and central nervous system are also affected in a smaller percentage of individuals. The disease causing gene has been identified as JAG1. An even wider spectrum of clinical involvement (including intestinal abnormalities, orofacial clefts, hearing loss, and mental retardation) may be seen in those individuals with Alagille syndrome and a deletion of chromosome 20p12.

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Ocular abnormalities in Alagille syndrome11None of the authors has any commercial interest arising from the findings presented in this article.

Cited by 146 publications

References 33 publications

Anterior Chamber Pathology in Alagille Syndrome

Anterior Chamber Pathology in Alagille Syndrome

Alagille Syndrome Associated with Myelinated Retinal Nerve Fibers

A lagille Syndrome

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