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Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

Aymane BouzidiHicham CharouteMajida CharifGhita AmalouMostafa KandilAbdelhamid BarakatGuy Lenaers
Published in: Orphanet journal of rare diseases (2022)
As both IRD and ION diseases constitute a real public health burden, their under-diagnosis in North Africa due to the absence of physicians trained to the identification of inherited ophthalmologic presentations, together with the scarcity of tools for the molecular diagnosis represent major political, economic and health challenges for the future, to first establish accurate clinical diagnoses and then treat patients with the emergent therapies.
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