A child with interstitial deletion of chromosome 17, right optic nerve hypoplasia, and impaired speech had bilateral congenital optic disc pigmentation, giving the appearance of gray optic discs. This appearance did not change over a period of two-and-a-half years. Previous cases of gray optic discs in neonates have been notable for 1) absence of visible pigmentation within the optic discs, 2) resolution of the gray discoloration over a period of months, and 3) development of albinotic features in several infants. This suggests that congenital optic disc pigmentation is a rare cause of gray optic discs. Congenital optic disc pigmentation is compatible with good vision.
- congenital optic disc pigmentation
- gray optic discs
- interstitial deletion of chromosome 17
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