Alagille Syndrome and Ocular Findings: Report of Two Pediatric Cases

Authors

  • Joana da Silva Rocha Ophthalmology Department, Hospital Pedro Hispano, Matosinhos, Portugal https://orcid.org/0000-0001-5656-417X
  • Ágata Mota Ophthalmology Department, Hospital Pedro Hispano, Matosinhos, Portugal
  • Isabel Ribeiro Ophthalmology Department, Hospital Pedro Hispano, Matosinhos, Portugal
  • Sofia Justo Ophthalmology Department, Hospital Pedro Hispano, Matosinhos, Portugal
  • Catarina Francisco Ophthalmology Department, Hospital Pedro Hispano, Matosinhos, Portugal

DOI:

https://doi.org/10.48560/rspo.43679

Keywords:

Alagille Syndrome/diagnosis, Alagille Syndrome/genetics, Child, Eye Abnormalities

Abstract

Alagille syndrome (ALGS) is a rare multisystemic disorder, with an estimated prevalence of 1 in 30 000–70 000 live births, caused by pathogenic variants in JAG1 or NOTCH2. It is characterized by variable expression of hepatic, cardiac, skeletal, facial, and ocular abnormalities.
We present two pediatric cases of confirmed ALGS, emphasizing the diagnostic value of ophthalmological findings. Comprehensive ophthalmological evaluation and multimodal imaging was performed at the Ophthalmology Department, Unidade Local de Saúde de Matosinhos, Portugal. Patients’ anonymity was preserved in accordance with the Declaration of Helsinki.
Both patients presented systemic features typical of ALGS and distinct ocular changes, namely subtle anterior segment anomalies, optic disc elevation and pallor, and diffuse fundus hypopigmentation.
Ocular manifestations are key diagnostic clues in ALGS and support early identification and multidisciplinary management. Early ophthalmic evaluation facilitates genetic confirmation and can guide timely diagnosis and improve outcomes in affected children.

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References

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Published

2026-03-19

How to Cite

da Silva Rocha, J., Mota, Ágata, Ribeiro, I., Justo, S., & Francisco, C. (2026). Alagille Syndrome and Ocular Findings: Report of Two Pediatric Cases. Revista Sociedade Portuguesa De Oftalmologia, 50(1), 81–85. https://doi.org/10.48560/rspo.43679

Issue

Vol. 50 No. 1 (2026)

Section

Case Reports

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