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 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.
Original language | English (US) |
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Pages (from-to) | 297-300 |
Number of pages | 4 |
Journal | Journal of AAPOS |
Volume | 23 |
Issue number | 5 |
DOIs | |
State | Published - Oct 2019 |
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health
- Ophthalmology