Diagnostics (Basel). 2026 Jan 12;16(2):241. doi: 10.3390/diagnostics16020241.
ABSTRACT
Alagille syndrome (ALGS) is a rare autosomal dominant multisystem disorder characterized by bile duct paucity, congenital heart defects, characteristic facial features, skeletal anomalies, and distinctive ocular findings. Although anterior segment anomalies such as posterior embryotoxon are well recognized, posterior segment involvement has recently gained attention. We present fundus findings in a 2-year-old boy with genetically confirmed Alagille syndrome. Under general anesthesia, fundus examination revealed pink optic discs with blurred margins and drusen-like deposits, absence of the foveal reflex, and mottled hypopigmented and hyperpigmented areas that were consistent with retinal pigment epithelium (RPE) degeneration. Peripheral pigment clumping and RPE atrophy were also observed, while retinal vessels appeared normal. These features are characteristic of pigmentary retinopathy associated with ALGS and highlight the expanding spectrum of posterior segment changes in this condition. Recognition of such findings is essential, as they may contribute to visual impairment and support the systemic diagnosis.
PMID:41594220 | DOI:10.3390/diagnostics16020241