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An unusual case of bilateral pigmented maculopathy and anterior segment dysgenesis

Abstract

Purpose

Pigmentary maculopathy can occur in the context of various inherited and acquired diseases. Anterior segment dysgenesis arises due to developmental anomalies and may be associated with systemic disease, as in Rieger syndrome.

Case report

A 49-year-old woman presented with longstanding reduction in vision, evidence of anterior segment dysgenesis, and multiple discrete pigmented lesions throughout the macula bilaterally. Electroretinographic findings were consistent with severe macular dysfunction. Gene array analysis did not reveal any chromosomal imbalances or other specific abnormalities.

Conclusions

This is a unique case of bilateral pigmentary maculopathy and anterior segment dysgenesis, with clinical findings that are not characteristic of previously reported disease.

Post author correction

Article Type: CASE REPORT

Article Subject: Retina MED

DOI:10.5301/ejo.5001073

Authors

Edward Bloch, Maria Pefkianaki, Jamil Hakim

Article History

Disclosures

Financial support: No financial support was received for this submission.
Conflict of interest: None of the authors has conflict of interest with this submission.

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Authors

Affiliations

  • Department of Ophthalmology, Queen Mary’s Hospital, King’s College Hospital NHS Foundation Trust, London - UK
  • Ocular Oncology Service, Wills Eye Hospital, Philadelphia, PA - USA

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