Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
未经证实：DYNC1H1基因突变与多种临床表现的多种神经综合征有关，眼睛和非眼睛。以前的病例报告概述了各种眼部表型，包括先天性白内障，婴儿发作，和成人发病，缺乏进一步的眼科细节。
未经评估：我们的病例报告概述，更详细地说,一名24个月大的男性，在DYNC1H1基因中出现杂合突变，左眼膨胀型白内障和右眼后囊下白内障，有进行性轴性近视的证据。
UNASSIGNED：根据我们病例中概述的发现，我们建议在DYNC1H1突变患者的儿童早期定期进行眼科检查，以筛查弱性眼部病理和潜在的快速发展的白内障。
未经评估：我们的病例报告概述，更详细地说,一名24个月大的男性，在DYNC1H1基因中出现杂合突变，左眼膨胀型白内障和右眼后囊下白内障，有进行性轴性近视的证据。
UNASSIGNED：根据我们病例中概述的发现，我们建议在DYNC1H1突变患者的儿童早期定期进行眼科检查，以筛查弱性眼部病理和潜在的快速发展的白内障。
