WOLFRAM SYNDROME: THE OCULAR MANIFESTATIONS AND LOW VISION MANAGEMENT OF THIS RARE NEURODEGENERATIVE DISORDER

Title WOLFRAM SYNDROME: THE OCULAR MANIFESTATIONS AND LOW VISION MANAGEMENT OF THIS RARE NEURODEGENERATIVE DISORDER
Author, Co-Author Kathryn Miller, Joanne Caruso
Topic
Year
1996
Day
Saturday
Program Number
Poster 40
Room
Exhibit Hall
Affiliation
New England College of Optometry
Abstract PURPOSE. Wolfram Syndrome, is a rare progressive neurodegenerative disorder resulting in diabetes mellitus, diabetes insipidus, optic atrophy, and nerve deafness. The variability in presentation of this disorder is a source of confusion to the clinician and may lead to misdiagnosis.

METHOD. A case report will be presented identifying the ocular and systemic findings and discussing the low vision management of this challenging case. The progression of ocular and systemic changes over an 8 year period will be presented highlighting the difficulties involved in early diagnosis. RESULTS. A 14 year old young man with Wolfram Syndrome presented with ocular findings including optic atrophy, variability in acuity measures and severe visual field constriction to 10 degrees. Of particular note is a rare presentation of a floriform cataract resembling a particulate deposit scattered throughout the posterior lens cortex. Although cataract has been noted in this syndrome, its location is described as being in the anterior and posterior lens cortex between the equator and pupil border. His medical history includes reports of polyuria and polydipsia since 6 years of age. A mild reduction in visual acuity to 20/50 was recorded at 8 years with a diagnosis of optic atrophy, presumed of congenital origin. Concurrently he developed anxiety and depression. At the age of 12.5 years, a high frequency hearing loss, thyroiditis and worsening acuity occurred. At this point a definitive diagnosis of Wolfram9s was made. The patient has managed successfully in a program at a school for the blind with the support of low vision devices and adaptations. CONCLUSION. This case illustrates the need for a multidisciplinary approach to insure the early diagnosis and management in Wolfram Syndrome. The ocular manifestations are addressed with emphasis on the variability of findings over time. A rare presentation of cataract is reported.
Affiliation of Co-Authors
Outline