Related Experiment Video
Updated: Mar 1, 2026
A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
Ocular findings in patients with cholestatic disorders of infancy: A single-centre experience
Hanaa El-Karaksy1, Dalia Hamed2, Hanan Fouad3
1Department of Paediatrics, Kasr Alainy Medical School, Cairo University, Cairo, Egypt.
Insights
Ocular abnormalities are common in infants with neonatal cholestasis, with optic nerve drusen and posterior embryotoxon being frequent. Routine ophthalmologic exams are recommended for early diagnosis of conditions like Alagille syndrome.
Area of Science:
- Ophthalmology
- Neonatal Medicine
- Pediatric Hepatology
Background:
- Neonatal cholestasis can present with ocular manifestations, aiding in the diagnosis of specific syndromes like Alagille syndrome (AGS) and Niemann-Pick disease (NPD).
- Investigating the frequency of these ocular findings in cholestatic infants is crucial for diagnostic and management strategies.
Purpose of the Study:
- To determine the prevalence of ocular abnormalities in infants diagnosed with neonatal cholestasis.
- To identify specific ophthalmologic findings associated with different causes of neonatal cholestasis.
Main Methods:
- A cross-sectional study involving 112 infants with neonatal cholestasis at Cairo University Paediatric Hospital.
- Comprehensive ophthalmologic examinations were conducted, including slit-lamp biomicroscopy, fundus examination, intraocular pressure measurement, refraction, and ocular ultrasonography.
Main Results:
- Ophthalmologic abnormalities were detected in 34.8% of the infants.
- The most common findings included optic nerve drusen (10.7%) and posterior embryotoxon (9.8%).
- Ocular findings were more frequent in infants with Alagille syndrome (64.3%) and Niemann-Pick disease (50%).
Conclusions:
- Ophthalmologic findings are frequently observed in infants with neonatal cholestasis.
- Routine ophthalmologic examinations, encompassing anterior segment assessment, fundus evaluation, and ocular ultrasound, are recommended for these patients.
Background And Study Aims:
Neonatal cholestasis can be associated with ocular findings that might aid in its diagnosis, e.g., Alagille syndrome (AGS) and Niemann Pick disease (NPD). We aimed to investigate the frequency of ocular manifestations in infants with cholestasis.
Patients And Methods:
This cross-sectional study included cholestatic infants presenting to the Paediatric Hepatology Unit, Cairo University Paediatric Hospital, Cairo, Egypt. All infants underwent examination of lid, ocular motility, anterior and posterior segments and measurement of intraocular pressure, cycloplegic refraction, ocular ultrasonography and vision.
Results:
The study included 112 infants with various cholestasis; 73 (65.2%) were males. The median age was 2months. Diagnosis was reached in 39 cases: 14 had AGS, 14 had biliary atresia (BA), 4 had NPD, 4 had post-haemolytic cholestasis, 2 had cytomegalovirus neonatal hepatitis, and one case had hepatorenal tyrosinaemia. Thirteen cases were probably having progressive familiar intrahepatic cholestasis (PFIC) type 1 or 2 considering their persistent cholestasis in the presence of normal gamma-glutamyl transpeptidase; 28 were left with a diagnosis of "idiopathic neonatal hepatitis" (INH), and 32 (28.6%) had no definite diagnosis. Ophthalmologic abnormalities were found in 39 cases (34.8%). The commonest finding was unilateral/bilateral optic nerve drusen in 12 (10.7%), followed by posterior embryotoxon in 11 (9.8%). Ocular findings were observed in 64.3% patients with AGS, 50% patients with NPD, 30.8% cases with suspected PFIC type 1or 2, 28.6% infants with INH, and 14.3% patients with BA.
Conclusion:
Ophthalmologic findings are not uncommon among cholestatic infants. Ophthalmologic examination should be routinely performed, including assessment of anterior segment, fundus examination, and ocular ultrasound.
