Thomas R Hedges, David Dombrovsky, Oluchukwu Onwuka, Laurel N Vuong, Yosbelkys Martin-Paez, Carlos Mendoza-Santiesteban
{"title":"Leber遗传性视神经病变转化过程中黄斑神经节细胞的初始改变。","authors":"Thomas R Hedges, David Dombrovsky, Oluchukwu Onwuka, Laurel N Vuong, Yosbelkys Martin-Paez, Carlos Mendoza-Santiesteban","doi":"10.1097/WNO.0000000000002384","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>We investigated the initial macular ganglion cell complex (GCC) changes in a group of patients during the conversion from normal vision to visual loss from Leber hereditary optic neuropathy (LHON).</p><p><strong>Methods: </strong>Optical coherence tomography scans from 17 eyes of 10 patients with genetically confirmed LHON obtained within 12 weeks of visual symptom onset were analyzed. The thickness of the GCC was measured in 6 macular sectors: superior nasal (SN), inferior nasal (IN), superior temporal, inferior temporal (IT), superior (SUP), and inferior (INF). Receiver operating characteristic (ROC) curves and area under the ROC curve (AUROC) analyses with DeLong comparison were used to evaluate the predictive reliability of GCC thinning in each sector.</p><p><strong>Results: </strong>Selective, nasal (perifoveal) GCC thinning was observed in most LHON eyes during the early stages, with the SN and IN sectors showing the highest AUROC values. Thinning in these sectors provided significantly greater predictive value for the presence of LHON than other sectors.</p><p><strong>Conclusions: </strong>Nasal GCC thinning is a reliable early indicator of the conversion from normal vision to visual loss in LHON as demonstrated in 10 of 17 eyes. This pattern of GCC loss provides insights into the disease mechanism and highlights the utility of OCT analysis for early diagnosis. The nasal GCC loss suggests selective vulnerability of ganglion cells serving the foveal region in LHON. Early identification of nasal GCC changes may facilitate timely intervention as gene therapy and other treatments become increasingly accessible.</p>","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":""},"PeriodicalIF":2.0000,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Initial Macular Ganglion Cell Changes During Conversion of Leber Hereditary Optic Neuropathy.\",\"authors\":\"Thomas R Hedges, David Dombrovsky, Oluchukwu Onwuka, Laurel N Vuong, Yosbelkys Martin-Paez, Carlos Mendoza-Santiesteban\",\"doi\":\"10.1097/WNO.0000000000002384\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>We investigated the initial macular ganglion cell complex (GCC) changes in a group of patients during the conversion from normal vision to visual loss from Leber hereditary optic neuropathy (LHON).</p><p><strong>Methods: </strong>Optical coherence tomography scans from 17 eyes of 10 patients with genetically confirmed LHON obtained within 12 weeks of visual symptom onset were analyzed. The thickness of the GCC was measured in 6 macular sectors: superior nasal (SN), inferior nasal (IN), superior temporal, inferior temporal (IT), superior (SUP), and inferior (INF). Receiver operating characteristic (ROC) curves and area under the ROC curve (AUROC) analyses with DeLong comparison were used to evaluate the predictive reliability of GCC thinning in each sector.</p><p><strong>Results: </strong>Selective, nasal (perifoveal) GCC thinning was observed in most LHON eyes during the early stages, with the SN and IN sectors showing the highest AUROC values. Thinning in these sectors provided significantly greater predictive value for the presence of LHON than other sectors.</p><p><strong>Conclusions: </strong>Nasal GCC thinning is a reliable early indicator of the conversion from normal vision to visual loss in LHON as demonstrated in 10 of 17 eyes. This pattern of GCC loss provides insights into the disease mechanism and highlights the utility of OCT analysis for early diagnosis. The nasal GCC loss suggests selective vulnerability of ganglion cells serving the foveal region in LHON. Early identification of nasal GCC changes may facilitate timely intervention as gene therapy and other treatments become increasingly accessible.</p>\",\"PeriodicalId\":16485,\"journal\":{\"name\":\"Journal of Neuro-Ophthalmology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.0000,\"publicationDate\":\"2025-08-13\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Neuro-Ophthalmology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/WNO.0000000000002384\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Neuro-Ophthalmology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/WNO.0000000000002384","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Initial Macular Ganglion Cell Changes During Conversion of Leber Hereditary Optic Neuropathy.
Background: We investigated the initial macular ganglion cell complex (GCC) changes in a group of patients during the conversion from normal vision to visual loss from Leber hereditary optic neuropathy (LHON).
Methods: Optical coherence tomography scans from 17 eyes of 10 patients with genetically confirmed LHON obtained within 12 weeks of visual symptom onset were analyzed. The thickness of the GCC was measured in 6 macular sectors: superior nasal (SN), inferior nasal (IN), superior temporal, inferior temporal (IT), superior (SUP), and inferior (INF). Receiver operating characteristic (ROC) curves and area under the ROC curve (AUROC) analyses with DeLong comparison were used to evaluate the predictive reliability of GCC thinning in each sector.
Results: Selective, nasal (perifoveal) GCC thinning was observed in most LHON eyes during the early stages, with the SN and IN sectors showing the highest AUROC values. Thinning in these sectors provided significantly greater predictive value for the presence of LHON than other sectors.
Conclusions: Nasal GCC thinning is a reliable early indicator of the conversion from normal vision to visual loss in LHON as demonstrated in 10 of 17 eyes. This pattern of GCC loss provides insights into the disease mechanism and highlights the utility of OCT analysis for early diagnosis. The nasal GCC loss suggests selective vulnerability of ganglion cells serving the foveal region in LHON. Early identification of nasal GCC changes may facilitate timely intervention as gene therapy and other treatments become increasingly accessible.
期刊介绍:
The Journal of Neuro-Ophthalmology (JNO) is the official journal of the North American Neuro-Ophthalmology Society (NANOS). It is a quarterly, peer-reviewed journal that publishes original and commissioned articles related to neuro-ophthalmology.