Congenital glycosylation disorder: a novel presentation of coexisting anterior and posterior segment pathology and its implications in pediatric cataract management

Abstract

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 7weeks 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.