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Optic disc dysplasia in poland syndrome
Steven D Maxfield1, Mitchell B Strominger
1Geisel School of Medicine at Dartmouth , Hanover, NH , USA and.
Ophthalmic Genetics
|May 8, 2013
Summary
This case report details optic disc dysplasia in a child with Poland syndrome. The observed optic nerve head anomalies suggest a potential link to vascular dysgenesis, a shared etiology with papillorenal syndrome.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Poland syndrome is a rare congenital condition characterized by chest wall and limb abnormalities.
- Optic disc anomalies are infrequently reported in association with Poland syndrome.
Observation:
- A 2-year-old boy with Poland syndrome presented with dysplastic optic discs.
- Examination revealed multiple cilioretinal vessels, situs inversus, inferotemporal excavation, and pigmentary disturbances.
Findings:
- The optic disc dysplasia observed in this case differs from previously reported anomalies in Poland syndrome.
- The findings share similarities with optic disc characteristics seen in papillorenal syndrome.
Implications:
- This case highlights the potential for vascular dysgenesis in Poland syndrome, possibly linking it to other syndromes with similar etiologies.
- Further research into the ocular manifestations of Poland syndrome is warranted.
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