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The case of the gray optic disc!
M C Brodsky1, E G Buckley, A McConkie-Rosell
1Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina.
Survey of Ophthalmology
|March 1, 1989
Summary
Congenital optic disc pigmentation can cause a gray optic disc appearance in infants, which is distinct from other causes. This rare condition is associated with good vision and does not resolve over time.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Gray optic discs in neonates are typically associated with hypopigmentation or albinism.
- Previous cases suggest transient gray optic discs that resolve over months.
Observation:
- A child with interstitial deletion of chromosome 17 presented with bilateral congenital optic disc pigmentation.
- This pigmentation created a persistent gray optic disc appearance over two and a half years.
- The child also had right optic nerve hypoplasia and impaired speech.
Findings:
- Congenital optic disc pigmentation is a rare cause of persistent gray optic discs.
- Unlike other reported cases, the gray appearance did not resolve.
- Good visual function was maintained despite the optic disc pigmentation.
Implications:
- Differentiates congenital optic disc pigmentation from transient neonatal gray optic discs.
- Highlights that congenital optic disc pigmentation is compatible with good vision.
- Suggests genetic and developmental factors may influence optic disc appearance and function.