The Diagnosis of Wolfram Syndrome

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Report of case:
A ten years old boy was referred by Pediatrician for ocular assessment. He was a known case of DM since last two years being on insulin and the pediatrician was concerned about Diabetic Retinopathy, as the patient had a complaint of gradual visual decline over past two years. The patient was born to a 1st degree consanguineous cousin marriage, with a normal birth history. He had been diagnosed with DM at the age of eight, receiving insulin. The referral letter from pediatrician along with a recent HBA1C report was a telltale of good glycemic control. Moreover, the document reported an unremarkable systemic exam (afebrile patient with normal CVS, intact CNS, clear chest and soft abdomen)
His general health was good. He stepped into my office with a normal gait. The patient was well oriented to time and place.
His unaided and best-corrected visual acuities with a manifest refraction; +1.00DS/-0.25DC@180 OU, were 6/60 OU. He could not discern any of color vision plates on Ishihara color vision test. Confrontation visual fields to careful finger counting were constricted however, confrontation testing appeared to be unreliable as patient’s cooperation was poor during the entire exam. Extraocular motilities were full OU. Both pupils were equally round, however poorly responsive to light with no RAPD. Intraocular pressures measured 12mmHg OU.
Examination revealed bilateral Ocular adnexa and Anterior segments to within normal limits. Anterior chambers were quiet and deep OU. Dilated fundus examination revealed both vitreous clear OU. His both Optic Nerve heads were pale consistent with the clinical appearance of Optic Atrophy. Rest of fundus examination was unremarkable, including a well-defined Fovea, healthy maculae, ...

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24. Hilson JB, Merchant SN, Adams JC, Joseph JT. Wolfram syndrome: a clinicopathologic correlation. Acta neuropathologica. 2009;118(3):415-28. Epub 2009/05/19.
25. G N, JL M. Retinal function in a unique syndrome of optic atrophy, juvenile diabetes mellitus, diabetes insipidus, neurosensory hearing loss, autonomic dysfunction, and hyperalaninuria. Invest OphthalmoI. 1972;11:617-24.
26. Carson M, Slager U, Steinberg R. Simultaneous Occurrence of diabetes mellitus, diabetes insipidus, and optic atrophy in a brother and sister. Am J Dis Child. 1977;131:1382-5.
27. Barrett T. Optic atrophy in Wolfram (DIDMOAD) syndrome. Eye (Lond). 1997;11(Pt 6):882 - 8.
28. Lim MC, Thai AC. A Chinese family with Wolfram syndrome presenting with rapidly progressing diabetic retinopathy and renal failure. Annals of the Academy of Medicine, Singapore. 1990;19(4):548-55. Epub 1990/07/01.

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