Nikolaos Gkalapis, Simon Dulz, Carsten Grohmann, Miriam Nickel, Christoph Schwering, Eva Wibbeler, Martin Stephan Spitzer, Angela Schulz, Yevgeniya Atiskova
{"title":"毛细血管周围视网膜神经纤维层（pRNFL）厚度--晚期婴幼儿CLN2疾病神经退行性变的新型生物标记物","authors":"Nikolaos Gkalapis, Simon Dulz, Carsten Grohmann, Miriam Nickel, Christoph Schwering, Eva Wibbeler, Martin Stephan Spitzer, Angela Schulz, Yevgeniya Atiskova","doi":"10.2147/EB.S473408","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the presence of peripapillary retinal nerve fiber layer (pRNFL) degeneration in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease and to evaluate the role of optical coherence tomography (OCT) assessed pRNFL thickness as a biomarker for CLN2 disease progression.</p><p><strong>Patients and methods: </strong>Forty eyes of 20 patients with genetically and enzymatically confirmed diagnosis of late-infantile CLN2 disease were included in this retrospective cohort study. All patients received 300 mg of intracerebroventricular enzyme replacement treatment (cerliponase alfa) once every two weeks. OCT imaging was performed under general anesthesia using spectral domain OCT (Heidelberg Engineering, Heidelberg, Germany). PRNFL thickness and central retinal thickness (CRT) values were manually confirmed with the Heidelberg Eye Explorer software. Corresponding pediatric data were extracted from the DEM-CHILD database. Spearman correlation coefficient values (rs) were calculated between pRNFL and CRT values, age at examination, the Weill Cornell Late Infantile Neuronal Ceroid Lipofuscinosis (Weill Cornell LINCL) Scale and the Hamburg Motor and Language (HML) Scale.</p><p><strong>Results: </strong>Fourteen of 20 patients underwent serial examinations resulting in a total of 84 OCT Scans and 42 Weill Cornell LINCL and HML Scale scores. Mean age was 6.90 years and mean follow-up time was 1.38 years. Mean global pRNFL (G-pRNFL) thickness was 77.02 μm presenting a significant decrease compared to normative values from healthy children (106.45 μm; p < 0.0001). G-pRNFL displayed significant correlations towards age at examination <i>(r<sub>s</sub></i> = - 0.557, p < 0.01), the Weill Cornell LINCL Scale <i>(r<sub>s</sub></i> = 0.849, p < 0.01), and the HML Scale <i>(r<sub>s</sub></i> = 0.833, p < 0.01). Repeated measurements indicated decreases in pRNFL thickness over time in most patients.</p><p><strong>Conclusion: </strong>Patients with late-infantile CLN2 disease exhibit early onset progressive pRNFL loss regardless of outer retinal degeneration, highlighting the potential of pRNFL as an independent ocular biomarker for retinal pathology in late-infantile CLN2 disease.</p>","PeriodicalId":51844,"journal":{"name":"Eye and Brain","volume":"16 ","pages":"101-113"},"PeriodicalIF":3.1000,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11571076/pdf/","citationCount":"0","resultStr":"{\"title\":\"Peripapillary Retinal Nerve Fiber Layer (pRNFL) Thickness - A Novel Biomarker of Neurodegeneration in Late-Infantile CLN2 Disease.\",\"authors\":\"Nikolaos Gkalapis, Simon Dulz, Carsten Grohmann, Miriam Nickel, Christoph Schwering, Eva Wibbeler, Martin Stephan Spitzer, Angela Schulz, Yevgeniya Atiskova\",\"doi\":\"10.2147/EB.S473408\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>To investigate the presence of peripapillary retinal nerve fiber layer (pRNFL) degeneration in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease and to evaluate the role of optical coherence tomography (OCT) assessed pRNFL thickness as a biomarker for CLN2 disease progression.</p><p><strong>Patients and methods: </strong>Forty eyes of 20 patients with genetically and enzymatically confirmed diagnosis of late-infantile CLN2 disease were included in this retrospective cohort study. All patients received 300 mg of intracerebroventricular enzyme replacement treatment (cerliponase alfa) once every two weeks. OCT imaging was performed under general anesthesia using spectral domain OCT (Heidelberg Engineering, Heidelberg, Germany). PRNFL thickness and central retinal thickness (CRT) values were manually confirmed with the Heidelberg Eye Explorer software. Corresponding pediatric data were extracted from the DEM-CHILD database. Spearman correlation coefficient values (rs) were calculated between pRNFL and CRT values, age at examination, the Weill Cornell Late Infantile Neuronal Ceroid Lipofuscinosis (Weill Cornell LINCL) Scale and the Hamburg Motor and Language (HML) Scale.</p><p><strong>Results: </strong>Fourteen of 20 patients underwent serial examinations resulting in a total of 84 OCT Scans and 42 Weill Cornell LINCL and HML Scale scores. Mean age was 6.90 years and mean follow-up time was 1.38 years. Mean global pRNFL (G-pRNFL) thickness was 77.02 μm presenting a significant decrease compared to normative values from healthy children (106.45 μm; p < 0.0001). G-pRNFL displayed significant correlations towards age at examination <i>(r<sub>s</sub></i> = - 0.557, p < 0.01), the Weill Cornell LINCL Scale <i>(r<sub>s</sub></i> = 0.849, p < 0.01), and the HML Scale <i>(r<sub>s</sub></i> = 0.833, p < 0.01). Repeated measurements indicated decreases in pRNFL thickness over time in most patients.</p><p><strong>Conclusion: </strong>Patients with late-infantile CLN2 disease exhibit early onset progressive pRNFL loss regardless of outer retinal degeneration, highlighting the potential of pRNFL as an independent ocular biomarker for retinal pathology in late-infantile CLN2 disease.</p>\",\"PeriodicalId\":51844,\"journal\":{\"name\":\"Eye and Brain\",\"volume\":\"16 \",\"pages\":\"101-113\"},\"PeriodicalIF\":3.1000,\"publicationDate\":\"2024-11-13\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11571076/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Eye and Brain\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2147/EB.S473408\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q1\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Eye and Brain","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2147/EB.S473408","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q1","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
Peripapillary Retinal Nerve Fiber Layer (pRNFL) Thickness - A Novel Biomarker of Neurodegeneration in Late-Infantile CLN2 Disease.
Purpose: To investigate the presence of peripapillary retinal nerve fiber layer (pRNFL) degeneration in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease and to evaluate the role of optical coherence tomography (OCT) assessed pRNFL thickness as a biomarker for CLN2 disease progression.
Patients and methods: Forty eyes of 20 patients with genetically and enzymatically confirmed diagnosis of late-infantile CLN2 disease were included in this retrospective cohort study. All patients received 300 mg of intracerebroventricular enzyme replacement treatment (cerliponase alfa) once every two weeks. OCT imaging was performed under general anesthesia using spectral domain OCT (Heidelberg Engineering, Heidelberg, Germany). PRNFL thickness and central retinal thickness (CRT) values were manually confirmed with the Heidelberg Eye Explorer software. Corresponding pediatric data were extracted from the DEM-CHILD database. Spearman correlation coefficient values (rs) were calculated between pRNFL and CRT values, age at examination, the Weill Cornell Late Infantile Neuronal Ceroid Lipofuscinosis (Weill Cornell LINCL) Scale and the Hamburg Motor and Language (HML) Scale.
Results: Fourteen of 20 patients underwent serial examinations resulting in a total of 84 OCT Scans and 42 Weill Cornell LINCL and HML Scale scores. Mean age was 6.90 years and mean follow-up time was 1.38 years. Mean global pRNFL (G-pRNFL) thickness was 77.02 μm presenting a significant decrease compared to normative values from healthy children (106.45 μm; p < 0.0001). G-pRNFL displayed significant correlations towards age at examination (rs = - 0.557, p < 0.01), the Weill Cornell LINCL Scale (rs = 0.849, p < 0.01), and the HML Scale (rs = 0.833, p < 0.01). Repeated measurements indicated decreases in pRNFL thickness over time in most patients.
Conclusion: Patients with late-infantile CLN2 disease exhibit early onset progressive pRNFL loss regardless of outer retinal degeneration, highlighting the potential of pRNFL as an independent ocular biomarker for retinal pathology in late-infantile CLN2 disease.
期刊介绍：
Eye and Brain is an international, peer-reviewed, open access journal focusing on basic research, clinical findings, and expert reviews in the field of visual science and neuro-ophthalmology. The journal’s unique focus is the link between two well-known visual centres, the eye and the brain, with an emphasis on the importance of such connections. All aspects of clinical and especially basic research on the visual system are addressed within the journal as well as significant future directions in vision research and therapeutic measures. This unique journal focuses on neurological aspects of vision – both physiological and pathological. The scope of the journal spans from the cornea to the associational visual cortex and all the visual centers in between. Topics range from basic biological mechanisms to therapeutic treatment, from simple organisms to humans, and utilizing techniques from molecular biology to behavior. The journal especially welcomes primary research articles or review papers that make the connection between the eye and the brain. Specific areas covered in the journal include: Physiology and pathophysiology of visual centers, Eye movement disorders and strabismus, Cellular, biochemical, and molecular features of the visual system, Structural and functional organization of the eye and of the visual cortex, Metabolic demands of the visual system, Diseases and disorders with neuro-ophthalmic manifestations, Clinical and experimental neuro-ophthalmology and visual system pathologies, Epidemiological studies.
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