Autoimmune-Related Retinopathy and Optic Neuropathy Accompanied by Anti-GAD Antibodies

Almarzouqi, Sumayya J.; Morgan, Michael L.; Carvounis, Petros; Lee, Andrew G.

doi:10.3109/01658107.2015.1050744

Cited by 6 publications

(13 citation statements)

References 11 publications

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“…However, the ERG features are not specific for ARRON. OCT shows thinning of the macular retina and photoreceptor cells [66].…”

Section: Autoimmune-related Retinopathy and Optic Neuropathymentioning

confidence: 99%

Removed: Atypical Optic Neuritis

Zoric¹,

Čolak²

2023

Optic Nerve - New Diagnostic and Therapeutic Approaches [Cancelled Title]

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Optic neuritis (ON) is defined as inflammatory optic neuropathy. In its initial clinical appearance, ON can have unilateral or bilateral manifestation and anterior (papillitis) or retrobulbar localizations. Traditionally, they are divided into typical and atypical ON. In the western hemisphere, most optic nerve inflammations are associated with multiple sclerosis, in their typical form. However, ON can be associated with a series of disorders of unknown or known origin. Atypical ON has a somewhat different clinical picture from typical and encompasses neuromyelitis optica spectrum disease (NMOSD), idiopathic recurrent neuroretinitis (NR), chronic relapsing inflammatory optic neuritis (CRION), ON within systemic autoimmune diseases, and neuritis during or after infectious diseases or vaccination. Their cause should be meticulously worked up, because of the therapeutic and prognostic challenges that they present.

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“…However, the ERG features are not specific for ARRON. OCT shows thinning of the macular retina and photoreceptor cells [66].…”

Section: Autoimmune-related Retinopathy and Optic Neuropathymentioning

confidence: 99%

Removed: Atypical Optic Neuritis

Zoric¹,

Čolak²

2023

Optic Nerve - New Diagnostic and Therapeutic Approaches [Cancelled Title]

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“…Retinopathy in the presence of GAD-antibody reactivity, or an SPS spectrum disorder, has been previously reported in the literature, mostly in the form of sporadic case reports [4][5][6]. However, interest has recently been rising in identifying a possible coexisting AIR in SPS patients [7].…”

Section: Gad-antibody-related Eye Syndromesmentioning

confidence: 99%

“…Involvement can be asymmetric and includes photosensitivity, color vision changes, and night blindness [42]. Pathology involves a cone, rod, or diffuse photoreceptor dysfunction [4], potentially leading to a diagnostic dilemma between an AIR and a cone-rod dystrophy diagnosis. Identification of a serum antibody helps in constituting a diagnosis of AIR; however, this is rarely achieved in patients with a non-cancer-related syndrome [41].…”

Section: Autoimmune Retinopathy (Air)mentioning

confidence: 99%

“…Autoimmune retinopathy (AIR) is a rare syndrome, mostly associated with a coexisting cancer diagnosis, while also presenting as an isolated autoimmune disease with antibodies against optic nerve antigens [4]. An extremely uncommon presentation of AIR with serum antibodies against GAD and a coexisting SPS syndrome has been previously described [5,6]; however, it is speculated that retinal pathology may be a clinically silent or overlooked occurrence in SPS patients [7].…”

Section: Introductionmentioning

confidence: 99%

“…Immunological treatment, including intravenous immune globulin (IVIg), has been applied to both SLS and AIR patients, with mixed results [3,4,6].…”

Section: Introductionmentioning

confidence: 99%

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Stiff-Leg Syndrome Associated with Autoimmune Retinopathy and Its Treatment with IVIg—A Case Report and Review of the Literature

Papadopoulos,

Papadimas,

Androudi

et al. 2023

Brain Sciences

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Antibodies to glutamic acid decarboxylase (GAD) have been predominantly associated with stiff-person syndrome (SPS), which is often accompanied by organ-specific autoimmune diseases, such as late-onset type 1 diabetes. Autoimmune retinal pathology in SPS has recently been suggested to coexist in patients suffering from this disease; however, evidence reporting potential treatment options for the neurological and visual symptoms these patients experience remains scarce. We provide a review of the relevant literature, presenting a rare case of a middle-aged woman with autoimmune retinopathy (AIR) followed by stiff-leg syndrome who responded to intravenous immune globulin treatment (IVIg). Our report adds to previously reported data supporting the efficacy of IVIg in SPS spectrum disorders while also proposing the potential effect of IVIg in treating SPS spectrum patients with coexisting AIR.

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