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.
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.
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
AuthorsEdward Bloch, Maria Pefkianaki, Jamil Hakim
- • Accepted on 18/10/2017
- • Available online on 08/11/2017
This article is available as full text PDF.
- Bloch, Edward [PubMed] [Google Scholar] 1, * Corresponding Author (firstname.lastname@example.org)
- Pefkianaki, Maria [PubMed] [Google Scholar] 1, 2
- Hakim, Jamil [PubMed] [Google Scholar] 1
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