Pigmentary maculopathy in a patient with Wolfram syndrome.
METHODS
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.


CONCLUSIONS
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.
Dhalla
Mandeep S
MS
Barnes Retina Institute, St. Lous, MO 63144, USA. Mandeep.S.Dhalla@gmail.com
Desai
Uday R
UR
Zuckerbrod
Daniel S
DS
D002648:Child; D003937:Diagnosis, Differential; D005451:Fluorescein Angiography; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D012174:Retinitis Pigmentosa / Q000150:complications* / Q000473:pathology; D014792:Visual Acuity; D014929:Wolfram Syndrome / Q000150:complications* / Q000473:pathology