Ophthalmologic findings in fifteen patients with Wolfram syndrome.
OBJECTIVE
To look for ophthalmologic abnormalities in 15 patients with Wolfram syndrome, also known as DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness).


METHODS
Fifteen patients from four inbred families diagnosed as having Wolfram syndrome at the National Center for Diabetes, Endocrinology and Genetics, in Amman, Jordan, were evaluated ophthalmologically. Their examination included best-corrected visual acuity, color vision testing, pupillary light reflexes, slit-lamp biomicroscopy and fundus examination. Fundus fluorescein angiography was done in all patients.


RESULTS
The prevalence of optic atrophy was (93.3%), colordefect (92.9%), cataract (66.6%), pigmentary retinopathy (30%) and diabetic retinopathy (20%). Abnormal pupillary light reflexes and nystagmus were also reported.


CONCLUSIONS
Although ourgroup of patients was genetically heterogeneous, the ophthalmic findings are consistent with those reported in other series, except for cataract which was highly prevalent but mild and did not contribute significantly to loss of vision.
Al-Till
M
M
Ophthalmology Department, Jordan University Hospital, Amman. mahaamr@hotmail.com
Jarrah
N S
NS
Ajlouni
K M
KM
D000293:Adolescent; D000328:Adult; D002386:Cataract / Q000175:diagnosis / Q000235:genetics; D002648:Child; D003118:Color Perception; D003117:Color Vision Defects / Q000175:diagnosis / Q000235:genetics; D003241:Consanguinity; D003930:Diabetic Retinopathy / Q000175:diagnosis / Q000235:genetics; D005128:Eye Diseases / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D009759:Nystagmus, Pathologic / Q000175:diagnosis / Q000235:genetics; D009896:Optic Atrophy / Q000175:diagnosis / Q000235:genetics; D011681:Pupil Disorders / Q000175:diagnosis / Q000235:genetics; D012025:Reflex, Pupillary; D014792:Visual Acuity; D014929:Wolfram Syndrome / Q000175:diagnosis* / Q000235:genetics