Retinal and optic nerve degeneration in α-mannosidosis
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Abstract
α-mannosidosis is a rare, autosomal-recessive, lysosomal storage disease caused by a deficient activity of α-mannosidase. Typical symptoms include intellectual, motor and hearing impairment, facial coarsening, and musculoskeletal abnormalities. Ocular pathologies reported previously were mainly opacities of the cornea and lens, strabismus, and ocular motility disorders. However, retinal and optic nerve degeneration have been rarely described.
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Orphanet journal of rare diseases, 13, BioMed Central, London, 2018, https://doi.org/10.1186/s13023-018-0829-z