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(Dilated pupil)
3,376 results
  • Iris anomalies and the incidence of ACTA2 mutation. [Journal Article]
  • BJBr J Ophthalmol 2018 Jun 06
  • Taubenslag KJ, Scanga HL, … Nischal KK
  • CONCLUSIONS: In this series, ACTA2 mutation or copy number variation was not detected in children presenting for iris flocculi, whereas congenital mydriasis was associated with R179 mutation in both cases that tested positive for ACTA2 mutation. The case of congenital mydriasis without typical cardiac features of the R179 ACTA2 phenotype or intracranial vasculopathy was negative for ACTA2 mutation. While all children presenting with these iris anomalies should be offered a genetic evaluation, incidence data should inform genetic counselling, particularly in the absence of a family history of aneurysm or sudden death, or systemic signs of smooth muscle dysfunction.
  • Ocular involvement in neurolymphomatosis. [Journal Article]
  • AJAm J Ophthalmol Case Rep 2018; 10:148-151
  • Liu KC, Hennessey MA, … Proia AD
  • CONCLUSIONS: Our patient is only the second histological demonstration of ciliary nerve involvement by NL, and the first, to our knowledge, of primary NL spreading secondarily from the ciliary nerves into the choroid. Our patient demonstrates that NL, though rare, should be included in the differential diagnosis of ocular cranial nerve palsies and ophthalmoplegia.
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