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Ocular ultrasound in Alagille syndrome: a new sign
K K Nischal1, M Hingorani, C R Bentley
1Oxford Eye Hospital, England.
Insights
Alagille syndrome (AS) is strongly associated with optic disc drusen, a finding not previously reported. This discovery may aid in diagnosing AS, particularly in young children.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Alagille syndrome (AS) is a genetic disorder causing intrahepatic cholestasis with neonatal jaundice.
- Distinguishing AS from other cholestatic syndromes is vital due to varied treatments and prognoses.
- Ophthalmic features, specifically posterior embryotoxon, are key diagnostic indicators for AS.
Purpose of the Study:
- To investigate the prevalence of optic disc drusen in children with Alagille syndrome.
- To determine if optic disc drusen can serve as a diagnostic marker for AS.
Main Methods:
- Ocular examinations, including A- and B-scan ultrasound, refraction, and fluorescein angiography, were performed.
- The study included 20 unrelated children with AS and 8 with non-AS-related cholestasis.
- Data analysis compared drusen incidence between AS patients and controls.
Main Results:
- Optic disc drusen were detected in 95% of AS patients (bilateral in 80%) via ultrasound.
- Independent review confirmed drusen in 90% of AS cases.
- The incidence of optic disc drusen in AS patients is significantly higher than in the general population.
Conclusions:
- A strong association between Alagille syndrome and optic disc drusen has been identified.
- Optic disc drusen may represent a novel diagnostic tool for Alagille syndrome, especially in pediatric cases.
- This finding is the first significant link between a systemic condition and optic disc drusen.
Background:
Alagille syndrome (AS) is one of six forms of familial intrahepatic cholestasis, all of which present with neonatal jaundice and paucity of intrahepatic bile ducts. Differentiation of these individual syndromes is crucial as their treatments and prognoses vary. It is the ophthalmic features, posterior embryotoxon on particular, that distinguish AS.
Methods:
The authors performed full ocular examination, including A- and B-scan ultrasound, refraction, and, where possible, fluorescein angiography in 20 unrelated children with AS and 8 with non-AS-related cholestasis.
Results:
There was ultrasound evidence of optic disc drusen in at least one eye in 95% and bilateral disc drusen in 80% of patients with AS but in none of the patients who were non-AS at the time of examination. Independent review of hard-copy scans suggested drusen in at least one eye in 90% of the cases and bilateral drusen in 50%, although this latter figure rose to 65% on review of the angiograms. This is markedly higher than the incidence in the normal population (0.3%-2%). Axial lengths were shorter than expected for the older age group (older than 10 years of age), but this was not associated with gross ametropia.
Conclusion:
This strong association of AS and optic disc drusen has not been reported previously and represents not only the first significant association between a systemic condition and disc drusen but also a possibly useful tool in the diagnosis of AS, especially in young children.