Asymptomatic ocular manifestations of aceruloplasminemia in two adult Caucasian siblings: a multi-modal imaging approach.

Abstract

PURPOSE\nTo report ocular manifestations of aceruloplasminemia (aCP) in two adult Caucasian siblings.Methods: The ocular findings were investigated using multimodal imaging approach including color fundus photography, fluorescein angiography, autofluorescence imaging, spectral-domain optical coherence tomography.\n\n\nRESULTS\nA 43-year-old woman and a 39-year-old man were diagnosed with aCP based on clinical symptoms, laboratory tests, liver biopsy and genetic examination of the ceruloplasmin gene confirming the homozygotic mutation G708S. Both patients had no ophthalmologic symptoms, unremarkable anterior segment and visual acuity of 20/20 in both eyes. Indirect ophthalmoscopy of the fundus revealed subtle yellowish color with punctate inhomogeneous pigmentation in the whole retina. The autofluorescence images demonstrated remarkable punctate hyperfluorescence involving the central as well as peripheral retina. Spectral-domain optical coherence tomography images showed normal retinal structure in the macular area with intact outer retinal layers. Fluorescein angiography showed slightly inhomogeneous pattern of hypo- and hyperfluorescence from early till the late angiography phase.\n\n\nCONCLUSION\nWe describe two adult cases of ocular manifestations of a rare hereditary condition with systemic iron overload. Retinal degeneration in aceruloplasminemia might be overlooked on a routine ophthalmic examination and requires at least an autofluorescence image, as initial damage at the level of retinal pigment epithelium is not always visible on ophthalmoscopy.