An Ophthalmic Entity More Than Liver Disease, Alagille Syndrome: A Genetically Confirmed Case Report

Alagille syndrome (ALGS) is a rare autosomal dominant disease that mainly affects the bile ducts and the liver. This syndrome may be associated with ophthalmic anomalies, but systemic diseases are often so obvious compared to ocular findings that many patients are referred to eye clinics after diagnosis. The diagnosis of ALGS is based on medical history and clinical findings. In this report, we describe and present a systemic disease of an undiagnosed ALGS based on eye findings. Papilledema and posterior embryotoxon were detected in the patient who was investigated due to headache. The diagnosis was made based on ophthalmological findings and was confirmed by genetic consultation. Missense mutations of the jagged canonical Notch ligand 1 gene located on chromosome 20p12.2 were detected. The patient benefited from treatment aimed at increasing intracranial pressure, and the etiology of symptoms related to other systems was clarified. The aim of this report is to support a clinical approach that evaluates possible common and rare comorbidities in ALGS from an ophthalmic perspective. We also emphasize the diversity of clinical presentation. ALGS affects multiple systems, so an integrative approach is important.

Keywords: Alagille syndrome, Jagged canonical Notch ligand 1 gene, Papilledema, Posterior embryotoxon