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

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 24-month-old male with a heterozygous mutation in the DYNC1H1 gene who developed a white, intumescent cataract in his left eye and a posterior subcapsular cataract in his right eye with evidence of progressive axial myopia. CONCLUSIONS: Based on the findings outlined in our case we suggest eye exams at regular intervals during early childhood in patients with DYNC1H1 mutations to screen for amblyogenic ocular pathology and potential rapidly developing cataracts.