Macular dystrophy is an extremely rare finding in patients with Alagille syndrome (ALGS) compared to other ocular abnormalities, according to a new study published in Ophthalmic Genetics.

A recent study conducted by a team from the University of Pittsburgh Medical Center in Pennsylvania described a case series of 3 patients with ALGS with molecularly confirmed JAG1 pathogenic variants.

All patients presented with macular atrophy, choroidal thinning, retinal pigmentary changes, and optic disc anomalies. Moreover, 2 patients showed progressive vision loss.

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“One likely explanation for this finding is the lack of proper fat-soluble vitamin absorption secondary to liver failure,” the authors wrote. For instance, vitamin A and vitamin E are essential for visual cycle and retina protection, respectively.

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However, Paez-Escamilla et al found normal levels of both vitamin A and vitamin E in their study cohort. Therefore, additional studies are necessary to uncover the cause of such alteration.

Another possible explanation might be the administration of the fungal metabolite tacrolimus, which is used as an immunosuppressive agent. A number of reports pointed to rare ophthalmological side effects, which could range from cortical blindness to optic neuropathy.

One case of macular atrophy was also described in a patient receiving tacrolimus. In this cohort, 2 patients received tacrolimus for an extended period. “Because of this, we recommended switching to another immunosuppressant,” Paez-Escamilla et al said.

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The 3 patients, 2 females and 1 male (aged 2, 14, and 15 years), were subjected to several ophthalmic examinations, including visual acuity measurements, ocular motility assessments, slit-lamp examinations, cycloplegic refractions, dilated fundus examinations, fundus photographing, optical coherence tomography, and visual electrophysiology.


Paez-Escamilla M, Scanga HL, Liasis A, Nischal KK. Macular atrophy in JAG1- related Alagille syndrome: a case series. Ophthalmic Genet. Published online December 10, 2021. doi:10.1080/13816810.2021.2004432