Pigmentary maculopathy in a patient with Wolfram syndrome |
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Authors: | Dhalla Mandeep S Desai Uday R Zuckerbrod Daniel S |
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Affiliation: | Barnes Retina Institute, St. Lous, MO 63144, USA. Mandeep.S.Dhalla@gmail.com |
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Abstract: | CASE REPORT: We describe a rare association of pigmentary maculopathy with Wolfram syndrome not previously reported in the literature. A 12-year-old boy presented to the retina service with a diagnosis of Wolfram syndrome and a history of poor central vision. The patient was found to have bilateral atrophic pigmentary maculopathy that was confirmed with fluorescein angiography. COMMENTS: Wolfram syndrome may present with a pigmentary maculopathy and this rare finding may assist the clinician in making appropriate genetic referral when this diagnosis is suspected. |
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Keywords: | diabetes mellitus optic nerve atrophy Wolfram syndrome pigmentary maculopathy diabetes insipidus |
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