Ocular Ultrasound in Alagille Syndrome

Nischal, Ken K.; Hingorani, Melanie; Bentley, Christopher; Vivian, Anthony J.; Bird, Alan C.; Baker, Alistair; Mowat, Alex P.; Mieli-Vergani, G.; Aclimandos, Wagih

doi:10.1016/s0161-6420(97)30358-3

Cited by 80 publications

(37 citation statements)

References 26 publications

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“…20 These elevated optic discs have been referred to as pseudopapilledema since elevated intracranial pressure is not typically associated with AGS. This case without drusen contrasts to the report by Nischal et al 25 that strongly suggests that disc drusen may be the cause of many of the elevated, abnormal appearing optic discs in AGS. In this paper, it is reported that all but one of twenty unrelated children with AGS had ultrasound evidence of disc drusen in one eye and 80% of the patients had bilateral disc drusen.…”

Section: Ocular Findings: Posterior Segmentcontrasting

confidence: 99%

The Genetics and Ocular Findings of Alagille Syndrome

Kim

Fulton

2007

Seminars in Ophthalmology

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Alagille syndrome is an autosomal dominant disorder caused by mutations in the JAG1 gene. The JAG1 gene encodes a ligand for the Notch receptor and thus is part of a critical signaling pathway during development. The ophthalmologist can play an important role in the diagnosis of Alagille syndrome by identifying the characteristic ocular findings. These include a posterior embryotoxon, optic disc drusen, angulated retinal vessels, and a pigmentary retinopathy. Despite recent advances in the genetics of Alagille syndrome, the correlations between genotypes and phenotypes remain incompletely defined.

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Section: Ocular Findings: Posterior Segmentcontrasting

confidence: 99%

The Genetics and Ocular Findings of Alagille Syndrome

Kim

Fulton

2007

Seminars in Ophthalmology

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“…42; 98; 150 This disorder is a form of familial intrahepatic cholestasis, with neonatal jaundice and paucity of intrahepatic bile ducts. Many ocular findings have been reported in association with Alagille syndrome, including posterior embryotoxon, pigmentary retinopathy, and optic disc drusen.…”

Section: Association Of Optic Disc Drusen With Other Ocular or Sysmentioning

confidence: 99%

“…Many ocular findings have been reported in association with Alagille syndrome, including posterior embryotoxon, pigmentary retinopathy, and optic disc drusen. 150 Ultrasonographic evidence of optic disc drusen is found in at least one eye in 90% of children with Alagille syndrome and both eyes in 50%. 150 The pathogenesis of optic disc drusen in Alagille syndrome is unclear.…”

Section: Association Of Optic Disc Drusen With Other Ocular or Sysmentioning

confidence: 99%

Optic disk drusen in children

Chang

Pineles

2016

Survey of Ophthalmology

109

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Optic disc drusen occur in 0.4% of children and consist of acellular intracellular and extracellular deposits that often become calcified over time. They are typically buried early in life and generally become superficial, and therefore visible, later in childhood, at the average age of 12 years. Their main clinical significance lies in the ability of optic disc drusen, particularly when buried, to simulate true optic disc edema. Misdiagnosing drusen as true disc edema may lead to an invasive and unnecessary workup for elevated intracranial pressure. Ancillary testing, including ultrasonography, fluorescein angiography, fundus autofluorescence, and optical coherence tomography, may aid in the correct diagnosis of optic disc drusen. Complications of optic disc drusen in children include visual field defects, hemorrhages, choroidal neovascular membrane, non-arteritic anterior ischemic optic neuropathy, and retinal vascular occlusions. Treatment options for these complications include ocular hypotensive agents for visual field defects and intravitreal anti-vascular endothelial growth factor (anti-VEGF) agents for choroidal neovascular membranes. In most cases, however, children with optic disc drusen can be managed by observation with serial examinations and visual field testing, once true optic disc edema has been excluded.

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“…Radiography of his thoracic spine showed a butterfly vertebra and cardiac catheterisation showed mild pulmonary stenosis. Ophthalmological examination showed an Axenfeldt anomaly (embryotoxon) behind both corneas 18. A liver biopsy specimen revealed an established cirrhosis with marked ductopenia, severe cholestasis, and accumulation of copper associated protein.…”

Section: Resultsmentioning

confidence: 99%

Hepatitis GB virus-C/hepatitis G virus infection in liver disease

Nagata

Tzampouras

Chokshi

et al. 1997

Archives of Disease in Childhood

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Hepatitis GB virus-C (HGBV-C)/hepatitis G virus (HGV) infection was investigated in 106 children with liver disease (54 boys and 52 girls, mean age 7.3 years); 12 with chronic hepatitis C virus infection, 29 with positive hepatitis B surface antigen, nine with idiopathic fulminant hepatic failure, seven with graft dysfunction after liver transplantation associated with autoimmune features, 20 with cryptogenic liver disease, and 29 with autoimmune liver disease. HGV RNA detected by reverse transcription polymerase chain reaction was found to be positive in 4/106 patients (3.8%). Risk factors were identified in three patients, including blood transfusion and/or medical treatment in Eastern Europe. The prevalence was higher than that of blood donors but lower than that of 2 adult patients with liver disease. HGV is not associated with any specific disease group and does not seem to be a major aetiological agent of liver disease in childhood in the UK. (Arch Dis Child 1997;77:223-226)

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Ocular Ultrasound in Alagille Syndrome

Cited by 80 publications

References 26 publications

The Genetics and Ocular Findings of Alagille Syndrome

The Genetics and Ocular Findings of Alagille Syndrome

Optic disk drusen in children

Hepatitis GB virus-C/hepatitis G virus infection in liver disease

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