Misaligned foveal morphology and sector retinal dysfunction in AKT1-mosaic Proteus syndrome

ConclusionWe propose this patient has asymmetric foveal development and concomitant sector retinal dysfunction as the result of the mosaic AKT1 mutation, either through disruption in the retinal PI3K-AKT1 signalling pathway or through mechanical distortion of ocular growth, resulting in disproportionate inner retinal development. The findings expand the ocular phenotype of Proteus syndrome and encourage early assessment to identify any incipient ocular abnormalities.

Source: Documenta Ophthalmologica - July 1, 2020 Category: Opthalmology Source Type: research