Ronak M Shah, Maya H Maloney, Aubrey L Gilbert, Amar P Patel, Robin A Vora
{"title":"僵人综合征患者的自身免疫性视网膜病变:病例报告。","authors":"Ronak M Shah, Maya H Maloney, Aubrey L Gilbert, Amar P Patel, Robin A Vora","doi":"10.1097/ICB.0000000000001543","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>The aim of this study was to describe a patient who developed retinal degeneration associated with autoimmune retinopathy and who was also found to have anti-glutamic acid decarboxylase (GAD65) autoantibodies and the diagnosis of stiff-person syndrome.</p><p><strong>Methods: </strong>Ophthalmologic workup consisted of clinical examination, multimodality retinal imaging, and electrophysiologic testing. Further neurologic assessment including relevant serum and cerebrospinal fluid studies was also conducted.</p><p><strong>Results: </strong>We highlight the case of a 45-year-old patient who developed subacute, sequential vision loss, along with bilateral lower extremity weakness. On initial presentation, optical coherence tomography of the left eye was notable for diffuse attenuation of the outer retinal bands. Fundus autofluorescence demonstrated a ring of hyperautofluorescence encircling the fovea of the left eye. At 15-month follow-up, the right eye also became similarly affected. He was found to have elevated serum and cerebrospinal anti-GAD65 autoantibodies and was diagnosed with both stiff-person syndrome and autoimmune retinopathy.</p><p><strong>Conclusion: </strong>There is a potential association of anti-GAD65 autoantibodies with the development of autoimmune retinopathy.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"139-144"},"PeriodicalIF":0.0000,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"AUTOIMMUNE RETINOPATHY IN A PATIENT WITH STIFF-PERSON SYNDROME: A CASE REPORT.\",\"authors\":\"Ronak M Shah, Maya H Maloney, Aubrey L Gilbert, Amar P Patel, Robin A Vora\",\"doi\":\"10.1097/ICB.0000000000001543\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>The aim of this study was to describe a patient who developed retinal degeneration associated with autoimmune retinopathy and who was also found to have anti-glutamic acid decarboxylase (GAD65) autoantibodies and the diagnosis of stiff-person syndrome.</p><p><strong>Methods: </strong>Ophthalmologic workup consisted of clinical examination, multimodality retinal imaging, and electrophysiologic testing. Further neurologic assessment including relevant serum and cerebrospinal fluid studies was also conducted.</p><p><strong>Results: </strong>We highlight the case of a 45-year-old patient who developed subacute, sequential vision loss, along with bilateral lower extremity weakness. On initial presentation, optical coherence tomography of the left eye was notable for diffuse attenuation of the outer retinal bands. Fundus autofluorescence demonstrated a ring of hyperautofluorescence encircling the fovea of the left eye. At 15-month follow-up, the right eye also became similarly affected. He was found to have elevated serum and cerebrospinal anti-GAD65 autoantibodies and was diagnosed with both stiff-person syndrome and autoimmune retinopathy.</p><p><strong>Conclusion: </strong>There is a potential association of anti-GAD65 autoantibodies with the development of autoimmune retinopathy.</p>\",\"PeriodicalId\":53580,\"journal\":{\"name\":\"Retinal Cases and Brief Reports\",\"volume\":\" \",\"pages\":\"139-144\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Retinal Cases and Brief Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1097/ICB.0000000000001543\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Retinal Cases and Brief Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1097/ICB.0000000000001543","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
AUTOIMMUNE RETINOPATHY IN A PATIENT WITH STIFF-PERSON SYNDROME: A CASE REPORT.
Purpose: The aim of this study was to describe a patient who developed retinal degeneration associated with autoimmune retinopathy and who was also found to have anti-glutamic acid decarboxylase (GAD65) autoantibodies and the diagnosis of stiff-person syndrome.
Methods: Ophthalmologic workup consisted of clinical examination, multimodality retinal imaging, and electrophysiologic testing. Further neurologic assessment including relevant serum and cerebrospinal fluid studies was also conducted.
Results: We highlight the case of a 45-year-old patient who developed subacute, sequential vision loss, along with bilateral lower extremity weakness. On initial presentation, optical coherence tomography of the left eye was notable for diffuse attenuation of the outer retinal bands. Fundus autofluorescence demonstrated a ring of hyperautofluorescence encircling the fovea of the left eye. At 15-month follow-up, the right eye also became similarly affected. He was found to have elevated serum and cerebrospinal anti-GAD65 autoantibodies and was diagnosed with both stiff-person syndrome and autoimmune retinopathy.
Conclusion: There is a potential association of anti-GAD65 autoantibodies with the development of autoimmune retinopathy.