Ophthalmic abnormalities are one of the five primary criteria for a diagnosis of Alagille syndrome (ALGS), the most prevalent of which are embryotoxon, pseudopapilledema, and hypopigmented retinopathy. Rarely is papilledema with or without intracranial hypertension (ICHT) documented. The study  presented 9 juvenile instances of ALGS with bilateral papilledema, 5 of which had ICHT. The researchers examined the ophthalmic data of 85 patients with clinically and/or genetically confirmed ALGS. A positive diagnosis of ALGS and the availability of ophthalmic follow-up data were the study’s inclusion criteria. Ophthalmic data from 40 individuals who had had liver transplantation (LT) for various reasons were also analyzed. All nine patients’ neurological and neuroimaging findings were normal. These 9 patients were divided into four groups: nontransplant, pretransplant papilledema persisting after LT, papilledema arising after LT with spontaneous remission, and papilledema with indications of ICHT after LT. Patients with ICHT were given either steroids or acetazolamide. Because of increasing vision loss, a ventriculoperitoneal shunt was implanted in two of the five instances. Pseudopapilledema was found in ten more individuals. After LT, one of the 40 patients who did not have ALGS developed papilledema.

True ICHT may go undiagnosed in ALGS patients. The findings highlight the importance of diligent ocular follow-up before and after LT in these individuals.

Reference: https://journals.lww.com/jpgn/Abstract/2020/11000/Intracranial_Hypertension_and_Papilledema_in_a.13.aspx