Abstract
To report novel ocular findings in unique Marinesco-Sjögren syndrome (early-onset cataracts, cerebellar ataxia, and a progressive myopathy), review literature, and discuss causes of vision decrease in this rare entity. A 3-year-old girl diagnosed with Marinesco-Sjögren syndrome underwent uneventful cataract surgery in both eyes within 1 week of her 2nd birthday. This was exactly similar to her sister and other two related family members. Additionally, she had prominent corneal nerves and subtle corneal subepithelial deposits in both eyes. Cataracts are one of the primary diagnostic criteria for the Marinesco-Sjögren syndrome, and their early diagnosis and treatment are important for prevention of additional permanent visual loss. Prominent corneal nerves and mild corneal subepithelial defects are described in this report and may occasionally be helpful in making the diagnosis.
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