Mallory K. Suarez, Timothy J. Martin, Sally S. Ong
{"title":"常染色体隐性遗传的沙勒沃瓦-萨古奈痉挛性共济失调症患者视网膜神经纤维层增厚,但无髓鞘化过度现象","authors":"Mallory K. Suarez, Timothy J. Martin, Sally S. Ong","doi":"10.1177/24741264241251582","DOIUrl":null,"url":null,"abstract":"Purpose: To report the retinal findings in a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay. Methods: A case was evaluated. Results: A 16-year-old male patient with a known diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay was referred for evaluation of retinal hypermyelination given its frequent association with the condition. The patient was asymptomatic with a best-corrected visual acuity of 20/20. Optical coherence tomography of the peripapillary retinal nerve fiber layer (RNFL) showed bilateral thickening in each eye (average thicknesses: 180 µm, right eye; 177 µm, left eye). An examination showed no myelinization of the RNFL. Conclusions: Most studies to date describe RNFL thickening secondary to hypermyelination as a characteristic finding in autosomal recessive spastic ataxia of Charlevoix-Saguenay. This case provides evidence that this thickening may be a result of hypertrophy rather than hypermyelination. Further investigation is needed to define the pathophysiologic cause of RNFL thickening in autosomal recessive spastic ataxia of Charlevoix-Saguenay.","PeriodicalId":17919,"journal":{"name":"Journal of VitreoRetinal Diseases","volume":null,"pages":null},"PeriodicalIF":0.5000,"publicationDate":"2024-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Thickened Retinal Nerve Fiber Layer Without Hypermyelination in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay\",\"authors\":\"Mallory K. Suarez, Timothy J. Martin, Sally S. Ong\",\"doi\":\"10.1177/24741264241251582\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Purpose: To report the retinal findings in a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay. Methods: A case was evaluated. Results: A 16-year-old male patient with a known diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay was referred for evaluation of retinal hypermyelination given its frequent association with the condition. The patient was asymptomatic with a best-corrected visual acuity of 20/20. Optical coherence tomography of the peripapillary retinal nerve fiber layer (RNFL) showed bilateral thickening in each eye (average thicknesses: 180 µm, right eye; 177 µm, left eye). An examination showed no myelinization of the RNFL. Conclusions: Most studies to date describe RNFL thickening secondary to hypermyelination as a characteristic finding in autosomal recessive spastic ataxia of Charlevoix-Saguenay. This case provides evidence that this thickening may be a result of hypertrophy rather than hypermyelination. Further investigation is needed to define the pathophysiologic cause of RNFL thickening in autosomal recessive spastic ataxia of Charlevoix-Saguenay.\",\"PeriodicalId\":17919,\"journal\":{\"name\":\"Journal of VitreoRetinal Diseases\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2024-05-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of VitreoRetinal Diseases\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/24741264241251582\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of VitreoRetinal Diseases","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/24741264241251582","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
Thickened Retinal Nerve Fiber Layer Without Hypermyelination in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Purpose: To report the retinal findings in a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay. Methods: A case was evaluated. Results: A 16-year-old male patient with a known diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay was referred for evaluation of retinal hypermyelination given its frequent association with the condition. The patient was asymptomatic with a best-corrected visual acuity of 20/20. Optical coherence tomography of the peripapillary retinal nerve fiber layer (RNFL) showed bilateral thickening in each eye (average thicknesses: 180 µm, right eye; 177 µm, left eye). An examination showed no myelinization of the RNFL. Conclusions: Most studies to date describe RNFL thickening secondary to hypermyelination as a characteristic finding in autosomal recessive spastic ataxia of Charlevoix-Saguenay. This case provides evidence that this thickening may be a result of hypertrophy rather than hypermyelination. Further investigation is needed to define the pathophysiologic cause of RNFL thickening in autosomal recessive spastic ataxia of Charlevoix-Saguenay.