Novel Ocular Features in a Child with Marinesco-Sjögren Syndrome: Case Report and Literature Review

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