Department of Ophthalmology, Krieger Eye Institute at Sinai Hospital, Baltimore, Maryland.
Department of Ophthalmology, Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania.
J AAPOS. 2019 Oct;23(5):297-300. doi: 10.1016/j.jaapos.2019.05.004. Epub 2019 May 30.
We report a case exhibiting the coexistence of anterior and posterior segment pathology in the same eye secondary to a congenital disorder of glycosylation resulting from a DPAGT1 gene mutation. This case details a novel gene mutation in a male infant found to have bilateral congenital cataracts, removed at 6 and 7 weeks of life, only to uncover bilateral retinal and optic atrophy. Our report highlights issues of surgical timing for syndrome-related pediatric cataracts, given the risks related to secondary glaucoma versus deprivation amblyopia, in an infant born with both cataracts and vision-limiting posterior segment pathology.
我们报告了一例因 DPAGT1 基因突变导致的先天性糖基化障碍而在同一眼中同时存在前节和后节病变的病例。该病例详细描述了一名男性婴儿的新基因突变，该婴儿发现患有双侧先天性白内障，分别于 6 周和 7 周龄时被切除，但随后发现双侧视网膜和视神经萎缩。我们的报告强调了与综合征相关的小儿白内障手术时机的问题，因为对于既有白内障又有后节病变导致视力受限的婴儿，继发性青光眼与剥夺性弱视的风险都需要考虑。
