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.
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health