Contributions
Abstract: P601
Type: Poster
Abstract Category: Pathology and pathogenesis of MS - 22 OCT
Objective: To assess structural and functional changes in the afferent visual system of patients with Stiff-Person Syndrome (SPS).
Background: SPS is a rare neuroimmunological disorder characterized by progressive rigidity and painful muscle spasms. The majority of patients exhibit autoantibodies directed against glutamic acid decarboxylase(GAD). SPS can be misdiagnosed as multiple sclerosis due to overlapping symptoms and demographics which delays appropriate diagnosis. SPS patients often have visual complaints which are often under-recognized and therefore have not been fully characterized in SPS.
Methods: Forty SPS patients and matched healthy controls underwent Cirrus HD-OCT, and a subset of 30 patients and matched controls underwent 100%, 2.5% and 1.25%-contrast letter-acuity testing. An automatic macular segmentation method was used to compute the combined thickness of the ganglion cell+inner plexiform layer (GCIP). Mixed effects linear regression models were used to investigate whether retinal layer thicknesses and visual function differed between SPS and controls.
Results: The SPS cohort was slightly older than controls, although not significantly (mean difference=3 years;p=0.17), and had a mean modified Rankin scale of 2.0(SD=0.66). Adjusting for age and a history of diabetes, the mean retinal thickness values were significantly lower in the SPS cohort (mean difference=5.1 µm;p=0.004), which appears to be driven by a thinned GCIP layer thickness (mean difference=1.9 µm;p=0.012). SPS patients exhibited lower visual acuity on 100%, 2.5% and 1.25% contrast letter-acuity charts (mean difference=4.3 letters, 5.8 letters and 5.0 letters;p=0.002, p=0.009 and p=0.031, respectively). Moreover, SPS patients without a history of diabetes exhibited significantly thinner GCIP layer thicknesses (p=0.05), and significantly worse visual acuity on high contrast, 2.5% contrast and 1.25% contrast charts (mean differences= 6.2, 6.4 and 5.4 letters; p=0.001, p=0.003, p=0.026, respectively) compared to controls.
Conclusions: SPS patients have mild visual dysfunction compared to healthy controls, as well as thinned GCIP layers. These findings suggest that SPS may cause retinal neuronal pathology, possibly resulting from an autoimmune retinopathy. Therefore SPS may share a common pathway(s) for retinal degeneration with MS. Clinicians should be aware of the expanding spectrum of SPS to help prevent misdiagnosis as more common conditions like MS.
Disclosure:
Thomas Shoemaker: nothing to disclose
Alissa Rothman: nothing to disclose.
Jerry Prince: nothing to disclose.
Scott Newsome has served on scientific advisory boards for Biogen, Genzyme Corporation, and Novartis, and received research support from Biogen, Novartis, and the National Multiple Sclerosis Society.
Peter Calabresi has received personal honorariums for consulting from Biogen and Vertex. He is PI on research grants to Johns Hopkins from Novartis, Teva, MedImmune, Annexon, and Biogen.
Shiv Saidha has received consulting fees from Medical Logix for the development of CME programs in neurology, consulting fees from Axon Advisors LLC, speaking honoraria from the National Association of Managed Care Physicians, Family Medicine Foundation of West Virginia, and Advanced Studies in Medicine and served on scientific advisory boards for Biogen-Idec, Genzyme, Genentech Corporation & Novartis. He receives research support from Genentech Corporation and the National MS Society, and received support from the Race to Erase MS foundation. He is a member of the working committee of the International Multiple Sclerosis Visual System (IMSVISUAL) Consortium.
Abstract: P601
Type: Poster
Abstract Category: Pathology and pathogenesis of MS - 22 OCT
Objective: To assess structural and functional changes in the afferent visual system of patients with Stiff-Person Syndrome (SPS).
Background: SPS is a rare neuroimmunological disorder characterized by progressive rigidity and painful muscle spasms. The majority of patients exhibit autoantibodies directed against glutamic acid decarboxylase(GAD). SPS can be misdiagnosed as multiple sclerosis due to overlapping symptoms and demographics which delays appropriate diagnosis. SPS patients often have visual complaints which are often under-recognized and therefore have not been fully characterized in SPS.
Methods: Forty SPS patients and matched healthy controls underwent Cirrus HD-OCT, and a subset of 30 patients and matched controls underwent 100%, 2.5% and 1.25%-contrast letter-acuity testing. An automatic macular segmentation method was used to compute the combined thickness of the ganglion cell+inner plexiform layer (GCIP). Mixed effects linear regression models were used to investigate whether retinal layer thicknesses and visual function differed between SPS and controls.
Results: The SPS cohort was slightly older than controls, although not significantly (mean difference=3 years;p=0.17), and had a mean modified Rankin scale of 2.0(SD=0.66). Adjusting for age and a history of diabetes, the mean retinal thickness values were significantly lower in the SPS cohort (mean difference=5.1 µm;p=0.004), which appears to be driven by a thinned GCIP layer thickness (mean difference=1.9 µm;p=0.012). SPS patients exhibited lower visual acuity on 100%, 2.5% and 1.25% contrast letter-acuity charts (mean difference=4.3 letters, 5.8 letters and 5.0 letters;p=0.002, p=0.009 and p=0.031, respectively). Moreover, SPS patients without a history of diabetes exhibited significantly thinner GCIP layer thicknesses (p=0.05), and significantly worse visual acuity on high contrast, 2.5% contrast and 1.25% contrast charts (mean differences= 6.2, 6.4 and 5.4 letters; p=0.001, p=0.003, p=0.026, respectively) compared to controls.
Conclusions: SPS patients have mild visual dysfunction compared to healthy controls, as well as thinned GCIP layers. These findings suggest that SPS may cause retinal neuronal pathology, possibly resulting from an autoimmune retinopathy. Therefore SPS may share a common pathway(s) for retinal degeneration with MS. Clinicians should be aware of the expanding spectrum of SPS to help prevent misdiagnosis as more common conditions like MS.
Disclosure:
Thomas Shoemaker: nothing to disclose
Alissa Rothman: nothing to disclose.
Jerry Prince: nothing to disclose.
Scott Newsome has served on scientific advisory boards for Biogen, Genzyme Corporation, and Novartis, and received research support from Biogen, Novartis, and the National Multiple Sclerosis Society.
Peter Calabresi has received personal honorariums for consulting from Biogen and Vertex. He is PI on research grants to Johns Hopkins from Novartis, Teva, MedImmune, Annexon, and Biogen.
Shiv Saidha has received consulting fees from Medical Logix for the development of CME programs in neurology, consulting fees from Axon Advisors LLC, speaking honoraria from the National Association of Managed Care Physicians, Family Medicine Foundation of West Virginia, and Advanced Studies in Medicine and served on scientific advisory boards for Biogen-Idec, Genzyme, Genentech Corporation & Novartis. He receives research support from Genentech Corporation and the National MS Society, and received support from the Race to Erase MS foundation. He is a member of the working committee of the International Multiple Sclerosis Visual System (IMSVISUAL) Consortium.