Abstract
Vici syndrome is a rare autosomal recessive inherited disease, which includes multisystem disorder of the body. Vici syndrome is characterized by agenesis of the corpus callosum, cardiomyopathy, combined immunodeficiency, cataracts and oculocutaneous hypopigmentation; profound developmental-delay, acquired microcephaly, cleft lip/palate and seizures are also involvement. The ophthalmological features of Vici syndrome include bilateral nuclear and anterior polar cataracts, nystagmus, bilateral optic nerve atrophy, and moderate fundus hypopigmentation. The condition is due to recessive mutations in the EPG5 autophagy gene on chromosome 18q. (Int Rev Ophthalmol, 2018, 42: 409-413) Key words: Vici syndrome; cataract; autophagy
Published Version
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