Ocular manifestations in a 2 year-old patient with a DYNC1H1 mutation.

Abstract excerpt

BACKGROUND: Mutations in the DYNC1H1 gene have been linked to multiple neurologic syndromes with a multitude of clinical manifestations, both ocular and non-ocular. Previous case reports have outlined various ocular phenotypes, including cataracts of congenital onset, infantile onset, and adult onset with lack of further ophthalmologic detail. CASE PRESENTATION: Our case report outlines, in more detail, a...

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