CHORIORETINAL ATROPHY IN ALAGILLE SYNDROME

To describe multimodal imaging findings in a patient with Alagille syndrome and associated chorioretinopathy.

In this case report, clinical examination and multimodal imaging, including fundus photography, spectral domain optical coherence tomography, and fundus autofluorescence (AF) and wide-field AF, are presented.

An 18-year-old Iranian-American girl with known history of Alagille syndrome reported diminished vision in both eyes. Color photographs depicted diffuse hypopigmentation of the fundus and atrophy of the macular retinal pigment epithelium with foveal sparing. Spectral domain optical coherence tomography revealed attenuation of the retinal pigment epithelium and overlying ellipsoid band. Fundus AF imaging of the macula revealed a geographic area of decreased AF that extended to the peripapillary region and inferotemporal arcade and contained discernable ovoid areas of deep AF loss in the nasal macula. Wide-field AF revealed a continuous and circumferential area of well-delineated decreased AF in the retinal periphery of both eyes.

This case represents a severe manifestation of posterior and peripheral chorioretinopathy in a patient with Alagille syndrome. This is the first documentation of significant peripheral chorioretinal atrophy as assessed by wide-field AF imaging in this condition.